المؤلفون: Hernandez-Gonzalez I; Department of Cardiology, Hospital Universitario Río Hortega, 47012 Valladolid, Spain., Tenorio-Castano J; Institute of Medical and Molecular Genetics (INGEMM)-IdiPAZ, Hospital Universitario La Paz-UAM, Paseo de La Castellana, 261, 28046 Madrid, Spain.; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Melchor Fernández Almagro Street, 3, 28029 Madrid, Spain.; ITHACA, European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability, Hospital Universitario La Paz, 28046 Madrid, Spain., Ochoa-Parra N; Unidad Multidisciplinar de Hipertensión Pulmonar, Servicio de Cardiología, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain., Gallego N; Institute of Medical and Molecular Genetics (INGEMM)-IdiPAZ, Hospital Universitario La Paz-UAM, Paseo de La Castellana, 261, 28046 Madrid, Spain.; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Melchor Fernández Almagro Street, 3, 28029 Madrid, Spain.; ITHACA, European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability, Hospital Universitario La Paz, 28046 Madrid, Spain., Pérez-Olivares C; Unidad Multidisciplinar de Hipertensión Pulmonar, Servicio de Cardiología, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain., Lago-Docampo M; CINBIO, Universidade de Vigo, 36310 Vigo, Spain.; Instituto de Investigación Sanitaria Galicia Sur (IIS Galicia Sur), SERGAS-UVIGO, 36312 Vigo, Spain., Palomino Doza J; Unidad Multidisciplinar de Hipertensión Pulmonar, Servicio de Cardiología, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain.; Unidad de Miocardiopatías Familiares, Servicio de Cardiología, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain., Valverde D; CINBIO, Universidade de Vigo, 36310 Vigo, Spain.; Instituto de Investigación Sanitaria Galicia Sur (IIS Galicia Sur), SERGAS-UVIGO, 36312 Vigo, Spain., Lapunzina P; Institute of Medical and Molecular Genetics (INGEMM)-IdiPAZ, Hospital Universitario La Paz-UAM, Paseo de La Castellana, 261, 28046 Madrid, Spain.; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Melchor Fernández Almagro Street, 3, 28029 Madrid, Spain.; ITHACA, European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability, Hospital Universitario La Paz, 28046 Madrid, Spain., Escribano-Subias P; Unidad Multidisciplinar de Hipertensión Pulmonar, Servicio de Cardiología, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain.; CIBERCV, Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares, ISCIII, 28029 Madrid, Spain.

المصدر: Cells [Cells] 2021 Jun 13; Vol. 10 (6). Date of Electronic Publication: 2021 Jun 13.

نوع المنشور: Clinical Trial; Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101600052 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4409 (Electronic) Linking ISSN: 20734409 NLM ISO Abbreviation: Cells Subsets: MEDLINE

مواضيع طبية MeSH: Lupus Erythematosus, Systemic*/complications , Lupus Erythematosus, Systemic*/genetics , Mutation* , Pulmonary Arterial Hypertension*/etiology , Pulmonary Arterial Hypertension*/genetics , Scleroderma, Systemic*/complications , Scleroderma, Systemic*/genetics, Female ; Humans ; Male ; Middle Aged

المؤلفون: Piceci-Sparascio F; Medical Genetics Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.; Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy., Palencia-Campos A; Instituto de Investigaciones Biomédicas de Madrid, Consejo Superior de Investigaciones Científicas-Universidad Autónoma de Madrid, Madrid, Spain.; CIBER de enfermedades Raras (CIBERER), Insitituto de Salud Carlos III, Madrid, Spain., Soto-Bielicka P; Instituto de Investigaciones Biomédicas de Madrid, Consejo Superior de Investigaciones Científicas-Universidad Autónoma de Madrid, Madrid, Spain., D'Anzi A; Cellular Reprogramming Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy., Guida V; Medical Genetics Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy., Rosati J; Cellular Reprogramming Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy., Caparros-Martin JA; Instituto de Investigaciones Biomédicas de Madrid, Consejo Superior de Investigaciones Científicas-Universidad Autónoma de Madrid, Madrid, Spain.; CIBER de enfermedades Raras (CIBERER), Insitituto de Salud Carlos III, Madrid, Spain., Torrente I; Medical Genetics Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy., D'Asdia MC; Medical Genetics Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy., Versacci P; Department of Pediatrics, Università Sapienza, Rome, Italy., Briuglia S; Department of Human Pathology of Adult and Childhood 'Gaetano Barresi', Unit of Emergency Pediatrics, University of Messina, Messina, Italy., Lapunzina P; CIBER de enfermedades Raras (CIBERER), Insitituto de Salud Carlos III, Madrid, Spain.; Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZm Hospital Universitario La Paz, Universidad Autónoma, Madrid, Spain., Tartaglia M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Marino B; Department of Pediatrics, Università Sapienza, Rome, Italy., Digilio MC; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Ruiz-Perez VL; Instituto de Investigaciones Biomédicas de Madrid, Consejo Superior de Investigaciones Científicas-Universidad Autónoma de Madrid, Madrid, Spain.; CIBER de enfermedades Raras (CIBERER), Insitituto de Salud Carlos III, Madrid, Spain.; Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZm Hospital Universitario La Paz, Universidad Autónoma, Madrid, Spain., De Luca A; Medical Genetics Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.

المصدر: Human mutation [Hum Mutat] 2020 Dec; Vol. 41 (12), pp. 2087-2093. Date of Electronic Publication: 2020 Oct 14.

نوع المنشور: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Predisposition to Disease*, Ellis-Van Creveld Syndrome/*genetics , Fingers/*abnormalities , Heart Septal Defects/*genetics , Membrane Proteins/*genetics , Mutation/*genetics , Polydactyly/*genetics , Toes/*abnormalities, Adult ; Animals ; Child ; Child, Preschool ; Ellis-Van Creveld Syndrome/diagnostic imaging ; Family ; Female ; Fingers/diagnostic imaging ; Heart Septal Defects/diagnostic imaging ; Humans ; Male ; Mice ; Pedigree ; Polydactyly/diagnostic imaging ; Toes/diagnostic imaging

SCR Disease Name: Atrioventricular Septal Defect; Polydactyly, Postaxial

عنوان ترانسليتريتد: Nuevas mutaciones asociadas a la enfermedad de Hirschsprung.

المؤلفون: Lorente-Ros M; Hospital Universitario La Paz, Madrid, España; Universidad Autónoma de Madrid, Madrid, España. Electronic address: martalorenteros@gmail.com., Andrés AM; Hospital Universitario La Paz, Madrid, España; Universidad Autónoma de Madrid, Madrid, España; Departamento de Cirugía Pediátrica, Hospital Universitario La Paz, Madrid, España., Sánchez-Galán A; Hospital Universitario La Paz, Madrid, España; Universidad Autónoma de Madrid, Madrid, España; Departamento de Cirugía Pediátrica, Hospital Universitario La Paz, Madrid, España., Amiñoso C; Instituto de Genética Médica y Molecular (INGEMM), IdiPAZ-CIBERER- Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, España., García S; Hospital Universitario La Paz, Madrid, España; Universidad Autónoma de Madrid, Madrid, España; Instituto de Genética Médica y Molecular (INGEMM), IdiPAZ-CIBERER- Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, España., Lapunzina P; Hospital Universitario La Paz, Madrid, España; Universidad Autónoma de Madrid, Madrid, España; Instituto de Genética Médica y Molecular (INGEMM), IdiPAZ-CIBERER- Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, España., Solera García J; Hospital Universitario La Paz, Madrid, España; Universidad Autónoma de Madrid, Madrid, España; Instituto de Genética Médica y Molecular (INGEMM), IdiPAZ-CIBERER- Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, España.

المصدر: Anales de pediatria [An Pediatr (Engl Ed)] 2020 Oct; Vol. 93 (4), pp. 222-227. Date of Electronic Publication: 2020 Jan 23.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: Spain NLM ID: 101765626 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2341-2879 (Electronic) Linking ISSN: 23412879 NLM ISO Abbreviation: An Pediatr (Engl Ed) Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, Hirschsprung Disease/*genetics , Proto-Oncogene Proteins c-ret/*genetics, Female ; Genetic Markers ; Genetic Testing ; Hirschsprung Disease/diagnosis ; Humans ; Infant, Newborn ; Male ; Prognosis ; Proto-Oncogene Mas ; Retrospective Studies

المؤلفون: Gordo G; Vascular Malformations Section, Institute of Medical and Molecular Genetics, INGEMM-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain., Rodriguez-Laguna L; Vascular Malformations Section, Institute of Medical and Molecular Genetics, INGEMM-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain., Agra N; Vascular Malformations Section, Institute of Medical and Molecular Genetics, INGEMM-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain., Mendez P; Unidad de Genética, Servicio de Inmunología y Genética, Complejo Hospitalario Universitario de Badajoz, Badajoz, Spain., Feito M; Department of Dermatology, Hospital Universitario La Paz, Madrid, Spain., Lapunzina P; Clinical Genetics Section, Institute of Medical and Molecular Genetics, INGEMM-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain., Lopez-Gutierrez JC; Vascular Anomalies Center-Plastic Surgery, Hospital Universitario La Paz, Madrid, Spain., Martinez-Glez V; Vascular Malformations Section, Institute of Medical and Molecular Genetics, INGEMM-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.; Clinical Genetics Section, Institute of Medical and Molecular Genetics, INGEMM-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain.

المصدر: Clinical genetics [Clin Genet] 2019 Apr; Vol. 95 (4), pp. 516-519. Date of Electronic Publication: 2019 Feb 04.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Association Studies*/methods , Genetic Predisposition to Disease* , Mosaicism* , Mutation*, Arteriovenous Malformations/*diagnosis , Arteriovenous Malformations/*genetics , Capillaries/*abnormalities , Port-Wine Stain/*diagnosis , Port-Wine Stain/*genetics , p120 GTPase Activating Protein/*genetics, Alleles ; Amino Acid Substitution ; Computed Tomography Angiography ; Female ; Genotype ; Humans ; Male

SCR Disease Name: Capillary Malformation-Arteriovenous Malformation

المؤلفون: Estañ MC; Instituto de Investigaciones Biomédicas 'Alberto Sols', CSIC-UAM, 28029, Madrid, Spain.; CIBER de Enfermedades Raras (CIBERER), ISCIII, 28029, Madrid, Spain., Fernández-Núñez E; Instituto de Investigaciones Biomédicas 'Alberto Sols', CSIC-UAM, 28029, Madrid, Spain., Zaki MS; Department of Clinical Genetics, Human Genetics and Genome Research Division, Centre of Excellence of Human Genetics, National Research Centre, Cairo, 12311, Egypt., Esteban MI; Departamento de Anatomía Patológica, Hospital Universitario La Paz-IdiPaz-UAM, 28046, Madrid, Spain., Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, 20814, USA., Hawkins C; Division of Pathology, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, University of Toronto, Toronto, ON, M5G 1X8, Canada., Caparros-Martin JA; Instituto de Investigaciones Biomédicas 'Alberto Sols', CSIC-UAM, 28029, Madrid, Spain.; CIBER de Enfermedades Raras (CIBERER), ISCIII, 28029, Madrid, Spain.; School of Pharmacy and Biomedical Sciences and Curtin Health Innovation Research Institute (CHIRI), Curtin University, Perth, WA, 6102, Australia., Saade D; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, 20814, USA., Hu Y; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, 20814, USA., Bolduc V; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, 20814, USA., Chao KR; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Boston, MA, 02115, USA., Nevado J; Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz-IdiPaz-UAM, 28046, Madrid, Spain., Lamuedra A; Bone and Joint Research Unit, The Institution of Health Research (IIS)-Fundación Jiménez Díaz, UAM, 28040, Madrid, Spain., Largo R; Bone and Joint Research Unit, The Institution of Health Research (IIS)-Fundación Jiménez Díaz, UAM, 28040, Madrid, Spain., Herrero-Beaumont G; Bone and Joint Research Unit, The Institution of Health Research (IIS)-Fundación Jiménez Díaz, UAM, 28040, Madrid, Spain., Regadera J; Departamento de Anatomía, Histología y Neurociencia, Facultad de Medicina, Universidad Autónoma de Madrid, 28029, Madrid, Spain., Hernandez-Chico C; CIBER de Enfermedades Raras (CIBERER), ISCIII, 28029, Madrid, Spain.; Servicio de Genética, Hospital Ramón y Cajal, 28034, Madrid, Spain., Tizzano EF; CIBER de Enfermedades Raras (CIBERER), ISCIII, 28029, Madrid, Spain.; Department of Clinical and Molecular Genetics and Rare Diseases Unit, Hospital Vall d'Hebron, 08035, Barcelona, Spain., Martinez-Glez V; CIBER de Enfermedades Raras (CIBERER), ISCIII, 28029, Madrid, Spain.; Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz-IdiPaz-UAM, 28046, Madrid, Spain., Carvajal JJ; Centro Andaluz de Biología del Desarrollo (CSIC-UPO-JA), Universidad Pablo de Olavide, 41013, Sevilla, Spain., Zong R; Department of Molecular and Human Genetics, Jan and Dan Duncan Neurological Research Institute, Baylor College of Medicine, 1250 Moursund Street, Houston, TX, 77030, USA., Nelson DL; Department of Molecular and Human Genetics, Jan and Dan Duncan Neurological Research Institute, Baylor College of Medicine, 1250 Moursund Street, Houston, TX, 77030, USA., Otaify GA; Department of Clinical Genetics, Human Genetics and Genome Research Division, Centre of Excellence of Human Genetics, National Research Centre, Cairo, 12311, Egypt., Temtamy S; Department of Clinical Genetics, Human Genetics and Genome Research Division, Centre of Excellence of Human Genetics, National Research Centre, Cairo, 12311, Egypt., Aglan M; Department of Clinical Genetics, Human Genetics and Genome Research Division, Centre of Excellence of Human Genetics, National Research Centre, Cairo, 12311, Egypt., Issa M; Department of Clinical Genetics, Human Genetics and Genome Research Division, Centre of Excellence of Human Genetics, National Research Centre, Cairo, 12311, Egypt., Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, 20814, USA., Lapunzina P; CIBER de Enfermedades Raras (CIBERER), ISCIII, 28029, Madrid, Spain.; Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz-IdiPaz-UAM, 28046, Madrid, Spain., Yoon G; Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, 555 University Avenue, Toronto, ON, M5G 1X8, Canada. grace.yoon@utoronto.ca.; Division of Neurology, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, M5G 1X8, Canada. grace.yoon@utoronto.ca., Ruiz-Perez VL; Instituto de Investigaciones Biomédicas 'Alberto Sols', CSIC-UAM, 28029, Madrid, Spain. vlruiz@iib.uam.es.; CIBER de Enfermedades Raras (CIBERER), ISCIII, 28029, Madrid, Spain. vlruiz@iib.uam.es.; Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz-IdiPaz-UAM, 28046, Madrid, Spain. vlruiz@iib.uam.es.

المصدر: Nature communications [Nat Commun] 2019 Feb 15; Vol. 10 (1), pp. 797. Date of Electronic Publication: 2019 Feb 15.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

مواضيع طبية MeSH: Genes, Recessive* , Mutation*, Genetic Predisposition to Disease/*genetics , Muscle, Skeletal/*metabolism , Myopathies, Structural, Congenital/*genetics , Ophthalmoplegia/*genetics , RNA-Binding Proteins/*genetics , Ryanodine Receptor Calcium Release Channel/*deficiency, Animals ; Cells, Cultured ; Exons/genetics ; Gene Expression ; HEK293 Cells ; HeLa Cells ; Humans ; Mice, Transgenic ; Myopathies, Structural, Congenital/congenital ; Myopathies, Structural, Congenital/metabolism ; Ophthalmoplegia/congenital ; Ophthalmoplegia/metabolism ; RNA-Binding Proteins/metabolism ; Ryanodine Receptor Calcium Release Channel/genetics ; Ryanodine Receptor Calcium Release Channel/metabolism

SCR Disease Name: Minicore Myopathy with External Ophthalmoplegia

المؤلفون: Hemati P; Institute for Genomic Medicine, Columbia University Medical Center, New York, New York., Revah-Politi A; Institute for Genomic Medicine, Columbia University Medical Center, New York, New York., Bassan H; Pediatric Neurology & Development Center, Assaf Harofe Medical Center, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Petrovski S; Institute for Genomic Medicine, Columbia University Medical Center, New York, New York.; Department of Medicine, Austin Health and Royal Melbourne Hospital, University of Melbourne, Melbourne, Victoria, Australia., Bilancia CG; Department of Pathology and Cell Biology, Columbia University Medical Center, New York, New York., Ramsey K; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, Arizona., Griffin NG; Institute for Genomic Medicine, Columbia University Medical Center, New York, New York., Bier L; Institute for Genomic Medicine, Columbia University Medical Center, New York, New York., Cho MT; GeneDx, Gaithersburg, Maryland., Rosello M; Unidad de Genetica, Hospital Universitario y Politecnico La Fe, Valencia, Spain., Lynch SA; Temple Street Children's University Hospital, Dublin, Ireland., Colombo S; Institute for Genomic Medicine, Columbia University Medical Center, New York, New York., Weber A; Department of Clinical Genetics, Liverpool Women's Hospital, Liverpool, United Kingdom., Haug M; Department of Medical Genetics, St. Olav's University Hospital, Trondheim, Norway., Heinzen EL; Institute for Genomic Medicine, Columbia University Medical Center, New York, New York., Sands TT; Institute for Genomic Medicine, Columbia University Medical Center, New York, New York., Narayanan V; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, Arizona., Primiano M; Department of Pediatrics, Children's Hospital of New York-Presbyterian, New York, New York., Aggarwal VS; Institute for Genomic Medicine, Columbia University Medical Center, New York, New York.; Department of Pathology and Cell Biology, Columbia University Medical Center, New York, New York., Millan F; GeneDx, Gaithersburg, Maryland., Sattler-Holtrop SG; Carle Physician Group, Urbana, Illinois.; Department of Genetics, Le Bonheur Children's Hospital, Memphis, Tennessee., Caro-Llopis A; Unidad de Genetica, Hospital Universitario y Politecnico La Fe, Valencia, Spain., Pillar N; Pediatric Neurology & Development Center, Assaf Harofe Medical Center, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Baker J; Genomics Medicine Program, Children's Hospitals and Clinics of Minnesota, Minneapolis, Minnesota., Freedman R; Genetic Services of Western Australia, Department of Health, Government of Western Australia, Perth, Western Australia, Australia.; School of Paediatrics and Child Health, University of Western Australia, Perth, Western Australia, Australia., Kroes HY; Department of Genetics, University Medical Center Utrecht, The Netherlands., Sacharow S; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts., Stong N; Institute for Genomic Medicine, Columbia University Medical Center, New York, New York., Lapunzina P; INGEMM, Instituto de Genética Médica y Molecular, IdiPAZ, Hospital Universitario la Paz, Universidad Autónoma de Madrid (UAM), Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras, CIBERER, ISCIII, Madrid, Spain., Schneider MC; Carle Physician Group, Urbana, Illinois.; Biochemical Genetics, Neurology Division, St Christopher's Hospital for Children, Philadelphia, Pennsylvania., Mendelsohn NJ; Genomics Medicine Program, Children's Hospitals and Clinics of Minnesota, Minneapolis, Minnesota., Singleton A; GeneDx, Gaithersburg, Maryland., Loik Ramey V; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts., Wou K; Division of Clinical Genetics, Department of Pediatrics, Columbia University Medical Center (CUMC), New York, New York., Kuzminsky A; Child development Center, Clalit Health Service, Netanya, Israel., Monfort S; Unidad de Genetica, Hospital Universitario y Politecnico La Fe, Valencia, Spain., Weiss M; Pediatric Neurology & Development Center, Assaf Harofe Medical Center, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Doyle S; Temple Street Children's University Hospital, Dublin, Ireland., Iglesias A; Division of Clinical Genetics, Department of Pediatrics, Columbia University Medical Center (CUMC), New York, New York., Martinez F; Unidad de Genetica, Hospital Universitario y Politecnico La Fe, Valencia, Spain., Mckenzie F; Genetic Services of Western Australia, Department of Health, Government of Western Australia, Perth, Western Australia, Australia.; School of Paediatrics and Child Health, University of Western Australia, Perth, Western Australia, Australia., Orellana C; Unidad de Genetica, Hospital Universitario y Politecnico La Fe, Valencia, Spain., van Gassen KLI; Department of Genetics, University Medical Center Utrecht, The Netherlands., Palomares M; INGEMM, Instituto de Genética Médica y Molecular, IdiPAZ, Hospital Universitario la Paz, Universidad Autónoma de Madrid (UAM), Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras, CIBERER, ISCIII, Madrid, Spain., Bazak L; Pediatric Neurology & Development Center, Assaf Harofe Medical Center, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Lee A; Brentwood Children's Clinic, Brentwood, Tennessee., Bircher A; Inner Vision Women's Ultrasound & Genetics, Nashville, Tennessee., Basel-Vanagaite L; Raphael Recanati Genetics Institute, Rabin Medical Center, Beilinson Campus, Petah Tikva, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Pediatric Genetics Unit, Schneider Children's Medical Center of Israel, Petah Tikva, Israel.; Felsenstein Medical Research Center, Rabin Medical Center, Petah Tikva, Israel., Hafström M; Department of Pediatrics, St Olav's Hospital, Trondheim, Norway.; Department of Laboratory Medicine, Children's and Women's Health, Norwegian University of Science and Technology, Trondheim, Norway., Houge G; Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway., Goldstein DB; Institute for Genomic Medicine, Columbia University Medical Center, New York, New York., Anyane-Yeboa K; Division of Clinical Genetics, Department of Pediatrics, Columbia University Medical Center (CUMC), New York, New York.

مؤلفون مشاركون: C4RCD Research Group; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, Arizona., DDD study; DDD Study, Wellcome Trust Sanger Institute, Hinxton, United Kingdom.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2018 Nov; Vol. 176 (11), pp. 2259-2275. Date of Electronic Publication: 2018 Sep 08.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't; Review

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Association Studies*, GTP-Binding Protein beta Subunits/*genetics , Mutation/*genetics, Adolescent ; Child ; Child, Preschool ; Cohort Studies ; Epilepsy/genetics ; Female ; GTP-Binding Protein beta Subunits/chemistry ; Humans ; Male ; Nervous System/growth & development ; Phenotype ; Pregnancy ; Protein Structure, Tertiary

المؤلفون: Kievit A; Department of Clinical Genetics, Erasmus Medical Center Rotterdam, Rotterdam, 3015CN, The Netherlands. j.a.kievit@erasmusmc.nl., Tessadori F; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, 3584CG, The Netherlands.; Hubrecht Institute-KNAW and University Medical Center Utrecht, Utrecht, 3584CT, The Netherlands., Douben H; Department of Clinical Genetics, Erasmus Medical Center Rotterdam, Rotterdam, 3015CN, The Netherlands., Jordens I; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, 3584CG, The Netherlands., Maurice M; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, 3584CG, The Netherlands., Hoogeboom J; Department of Clinical Genetics, Erasmus Medical Center Rotterdam, Rotterdam, 3015CN, The Netherlands., Hennekam R; Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, 1105AZ, The Netherlands., Nampoothiri S; Department of Pediatric Genetics, Amrita Institute of Medical Sciences & Research Centre, Kerala, 682041, India., Kayserili H; Department of Medical Genetics, Koç University School of Medicine, Istanbul, 34450, Turkey., Castori M; Division of Medical Genetics, IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, 71013, Italy., Whiteford M; Department of Clinical Genetics, Queen Elizabeth University Hospital, Glasgow, G51 4TF, UK., Motter C; Division of Medical Genetics, Akron Children's Hospital, Akron, OH, 44308, USA., Melver C; Division of Medical Genetics, Akron Children's Hospital, Akron, OH, 44308, USA., Cunningham M; Division of Craniofacial Medicine, University of Washington Department of Pediatrics, Jean Renny Chair of Craniofacial Medicine, Seattle Children's Craniofacial Center, Seattle, WA, 98105, USA., Hing A; Division of Craniofacial Medicine, University of Washington Department of Pediatrics, Jean Renny Chair of Craniofacial Medicine, Seattle Children's Craniofacial Center, Seattle, WA, 98105, USA., Kokitsu-Nakata NM; Department of Clinical Genetics, Hospital for Rehabilitation of Craniofacial Anomalies (HRCA), University of São Paulo, Bauru, 17012-900, Brazil., Vendramini-Pittoli S; Department of Clinical Genetics, Hospital for Rehabilitation of Craniofacial Anomalies (HRCA), University of São Paulo, Bauru, 17012-900, Brazil., Richieri-Costa A; Department of Clinical Genetics, Hospital for Rehabilitation of Craniofacial Anomalies (HRCA), University of São Paulo, Bauru, 17012-900, Brazil., Baas AF; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, 3584CG, The Netherlands., Breugem CC; Department of Pediatric Plastic Surgery, Wilhelmina Children's Hospital, University Medical Centre Utrecht, Utrecht, 3584EA, The Netherlands., Duran K; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, 3584CG, The Netherlands., Massink M; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, 3584CG, The Netherlands., Derksen PWB; Department of Pathology, University Medical Center Utrecht, Utrecht, 3584CX, The Netherlands., van IJcken WFJ; Erasmus Center for Biomics, Erasmus Medical Center, Rotterdam, 3015CN, The Netherlands., van Unen L; Department of Clinical Genetics, Erasmus Medical Center Rotterdam, Rotterdam, 3015CN, The Netherlands., Santos-Simarro F; INGEMM, Institute of Medical and Molecular Genetics, Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, CIBERER, ISCIII, Madrid, 28049, Spain., Lapunzina P; INGEMM, Institute of Medical and Molecular Genetics, Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, CIBERER, ISCIII, Madrid, 28049, Spain., Gil-da Silva Lopes VL; Department of Medical Genetics, Faculty of Medical Sciences, University of Campinas, UNICAMP, Campinas, São Paulo, 13083-970, Brazil., Lustosa-Mendes E; Department of Medical Genetics, Faculty of Medical Sciences, University of Campinas, UNICAMP, Campinas, São Paulo, 13083-970, Brazil., Krall M; Department of Pediatrics, University of California, San Francisco, Benioff Children's Hospital, San Francisco, CA, 94158, USA., Slavotinek A; Department of Pediatrics, University of California, San Francisco, Benioff Children's Hospital, San Francisco, CA, 94158, USA., Martinez-Glez V; INGEMM, Institute of Medical and Molecular Genetics, Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, CIBERER, ISCIII, Madrid, 28049, Spain., Bakkers J; Hubrecht Institute-KNAW and University Medical Center Utrecht, Utrecht, 3584CT, The Netherlands.; Department of Medical Physiology, Division of Heart and Lungs, University Medical Center Utrecht, Utrecht, 3584CM, The Netherlands., van Gassen KLI; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, 3584CG, The Netherlands., de Klein A; Department of Clinical Genetics, Erasmus Medical Center Rotterdam, Rotterdam, 3015CN, The Netherlands., van den Boogaard MH; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, 3584CG, The Netherlands., van Haaften G; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, 3584CG, The Netherlands. G.vanhaaften@umcutrecht.nl.

المصدر: European journal of human genetics : EJHG [Eur J Hum Genet] 2018 Feb; Vol. 26 (2), pp. 210-219. Date of Electronic Publication: 2018 Jan 18.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, Antigens, CD/*genetics , Cadherins/*genetics , Catenins/*genetics , Cleft Lip/*genetics , Cleft Palate/*genetics , Ectropion/*genetics , Tooth Abnormalities/*genetics, Adolescent ; Adult ; Animals ; Antigens, CD/metabolism ; Cadherins/metabolism ; Catenins/metabolism ; Cell Adhesion ; Child ; Child, Preschool ; Cleft Lip/pathology ; Cleft Palate/pathology ; Ectropion/pathology ; Female ; Humans ; MCF-7 Cells ; Male ; Protein Binding ; Tooth Abnormalities/pathology ; Zebrafish ; Delta Catenin

SCR Disease Name: Blepharo-cheilo-dontic syndrome

المؤلفون: Writzl K; Clinical Institute of Medical Genetics, University Medical Centre, 1000 Ljubljana, Slovenia. Electronic address: karinwritzl@gmail.com., Maver A; Clinical Institute of Medical Genetics, University Medical Centre, 1000 Ljubljana, Slovenia., Kovačič L; Novartis Ireland Ltd., Novartis, Vista Building, Elm Business Park, D04A9N6 Dublin 4, Ireland., Martinez-Valero P; Departamento de Biología Molecular, Centro de Biología Molecular Severo Ochoa, Universidad Autónoma de Madrid and Consejo Superior de Investigaciones Científicas, 28049 Madrid, Spain; Instituto de Investigación Sanitaria Fundación Jiménez Diaz, 28049 Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras, Instituto de Salud Carlos III, 28049 Madrid, Spain., Contreras L; Departamento de Biología Molecular, Centro de Biología Molecular Severo Ochoa, Universidad Autónoma de Madrid and Consejo Superior de Investigaciones Científicas, 28049 Madrid, Spain; Instituto de Investigación Sanitaria Fundación Jiménez Diaz, 28049 Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras, Instituto de Salud Carlos III, 28049 Madrid, Spain., Satrustegui J; Departamento de Biología Molecular, Centro de Biología Molecular Severo Ochoa, Universidad Autónoma de Madrid and Consejo Superior de Investigaciones Científicas, 28049 Madrid, Spain; Instituto de Investigación Sanitaria Fundación Jiménez Diaz, 28049 Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras, Instituto de Salud Carlos III, 28049 Madrid, Spain., Castori M; Division of Medical Genetics, Casa Sollievo della Sofferenza, Istituto di Ricovero e Cura a Carattere Scientifico, 71013 San Giovanni Rotondo, Foggia, Italy., Faivre L; Centre de Référence Maladies Rares 'cAnomalies du Développement et Syndromes Malformatifsc,' Centre de Génétique, FHU-TRANSLAD, Hôpital d'Enfants, Centre Hospitalier Universitaire Dijon Bourgogne, 21079 Dijon, France; UMR 1231, Génétique des Anomalies du Développement, INSERM, Université de Bourgogne Franche-Comté, 21079 Dijon, France., Lapunzina P; Instituto de Genética Médica y Molecular-IdiPAZ, Hospital Universitario La Paz, Centro de Investigación Biomédica en Red de Enfermedades Raras, 261-28046 Madrid, Spain., van Kuilenburg ABP; Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, 1105 AZ Amsterdam, the Netherlands., Radović S; IGA Technology Services Srl., 33100 Udine, Italy., Thauvin-Robinet C; Centre de Référence Maladies Rares 'cAnomalies du Développement et Syndromes Malformatifsc,' Centre de Génétique, FHU-TRANSLAD, Hôpital d'Enfants, Centre Hospitalier Universitaire Dijon Bourgogne, 21079 Dijon, France; UMR 1231, Génétique des Anomalies du Développement, INSERM, Université de Bourgogne Franche-Comté, 21079 Dijon, France., Peterlin B; Clinical Institute of Medical Genetics, University Medical Centre, 1000 Ljubljana, Slovenia., Del Arco A; Instituto de Investigación Sanitaria Fundación Jiménez Diaz, 28049 Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras, Instituto de Salud Carlos III, 28049 Madrid, Spain; Facultad de Ciencias Ambientales y Bioquímica, Centro Regional de Investigaciones Biomédicas, Universidad de Castilla la Mancha, 45071-Toledo, Spain., Hennekam RC; Department of Pediatrics, Academic Medical Center, University of Amsterdam, 1105AZ Amsterdam, the Netherlands.

المصدر: American journal of human genetics [Am J Hum Genet] 2017 Nov 02; Vol. 101 (5), pp. 844-855.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Aging/*genetics , Antiporters/*genetics , Bone Diseases, Developmental/*genetics , Calcium-Binding Proteins/*genetics , Mitochondrial Proteins/*genetics , Mutation/*genetics, Adenine/metabolism ; Adenosine Triphosphate/metabolism ; Cytosol/metabolism ; Female ; Fetal Death ; Fibroblasts/metabolism ; Humans ; Infant ; Infant, Newborn ; Male ; Membrane Potential, Mitochondrial/genetics ; Mitochondria/genetics ; Mitochondria/metabolism ; Mitochondrial Proteins/metabolism ; Molecular Dynamics Simulation ; Oxygen/metabolism ; Phosphates/metabolism ; Syndrome

المؤلفون: Paumard-Hernández B; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, Madrid, Spain., Berges-Soria J; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, Madrid, Spain., Barroso E; 1] Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, Madrid, Spain [2] Centro de Investigación Biomédica en Enfermedades Raras (CIBERER), Instituto Carlos III, Madrid, Spain., Rivera-Pedroza CI; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, Madrid, Spain., Pérez-Carrizosa V; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, Madrid, Spain., Benito-Sanz S; 1] Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, Madrid, Spain [2] Centro de Investigación Biomédica en Enfermedades Raras (CIBERER), Instituto Carlos III, Madrid, Spain., López-Messa E; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, Madrid, Spain., Santos F; 1] Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, Madrid, Spain [2] Centro de Investigación Biomédica en Enfermedades Raras (CIBERER), Instituto Carlos III, Madrid, Spain., García-Recuero II; Maxilofacial Surgery Unit, Hospital 12 de Octubre, Madrid, Spain., Romance A; Maxilofacial Surgery Unit, Hospital 12 de Octubre, Madrid, Spain., Ballesta-Martínez JM; 1] Centro de Investigación Biomédica en Enfermedades Raras (CIBERER), Instituto Carlos III, Madrid, Spain [2] Medical Genetics Unit, Department of Pediatrics, Hospital Clínico Universitario Virgen de la Arrixaca, Madrid, Spain., López-González V; 1] Centro de Investigación Biomédica en Enfermedades Raras (CIBERER), Instituto Carlos III, Madrid, Spain [2] Medical Genetics Unit, Department of Pediatrics, Hospital Clínico Universitario Virgen de la Arrixaca, Madrid, Spain., Campos-Barros Á; 1] Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, Madrid, Spain [2] Centro de Investigación Biomédica en Enfermedades Raras (CIBERER), Instituto Carlos III, Madrid, Spain., Cruz J; Dysmorphology Unit, Hospital Universitario Doce de Octubre, Madrid, Spain., Guillén-Navarro E; 1] Centro de Investigación Biomédica en Enfermedades Raras (CIBERER), Instituto Carlos III, Madrid, Spain [2] Medical Genetics Unit, Department of Pediatrics, Hospital Clínico Universitario Virgen de la Arrixaca, Madrid, Spain [3] Cátedra de Genética Médica. UCAM-Universidad Católica San Antonio de Murcia, Madrid, Spain., Sánchez Del Pozo J; Dysmorphology Unit, Hospital Universitario Doce de Octubre, Madrid, Spain., Lapunzina P; 1] Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, Madrid, Spain [2] Centro de Investigación Biomédica en Enfermedades Raras (CIBERER), Instituto Carlos III, Madrid, Spain., García-Miñaur S; 1] Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, Madrid, Spain [2] Centro de Investigación Biomédica en Enfermedades Raras (CIBERER), Instituto Carlos III, Madrid, Spain., Heath KE; 1] Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, Madrid, Spain [2] Centro de Investigación Biomédica en Enfermedades Raras (CIBERER), Instituto Carlos III, Madrid, Spain.

المصدر: European journal of human genetics : EJHG [Eur J Hum Genet] 2015 Jul; Vol. 23 (7), pp. 907-14. Date of Electronic Publication: 2014 Oct 01.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, Basic Helix-Loop-Helix Transcription Factors/*genetics , Craniosynostoses/*genetics , Genetic Predisposition to Disease/*genetics, Cohort Studies ; Craniosynostoses/diagnosis ; DNA Mutational Analysis ; Ephrin-B1/genetics ; Family Health ; Female ; Genetic Testing/methods ; HEK293 Cells ; Humans ; Male ; Nuclear Proteins/genetics ; Pedigree ; Receptor, Fibroblast Growth Factor, Type 1/genetics ; Receptor, Fibroblast Growth Factor, Type 2/genetics ; Receptor, Fibroblast Growth Factor, Type 3/genetics ; Reproducibility of Results ; Sensitivity and Specificity ; Spain ; Twist-Related Protein 1/genetics

المؤلفون: Tenorio J; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain; Molecular Endocrinology Unit - Overgrowth Syndromes Laboratory, INGEMM, Instituto de Genética Médica y Molecular, IdiPAZ, Hospital Universitario La Paz, Universidad Autónoma de Madrid (UAM), Madrid, Spain., Mansilla A, Valencia M, Martínez-Glez V, Romanelli V, Arias P, Castrejón N, Poletta F, Guillén-Navarro E, Gordo G, Mansilla E, García-Santiago F, González-Casado I, Vallespín E, Palomares M, Mori MA, Santos-Simarro F, García-Miñaur S, Fernández L, Mena R, Benito-Sanz S, del Pozo Á, Silla JC, Ibañez K, López-Granados E, Martín-Trujillo A, Montaner D, Heath KE, Campos-Barros Á, Dopazo J, Nevado J, Monk D, Ruiz-Pérez VL, Lapunzina P

مؤلفون مشاركون: SOGRI Consortium

المصدر: Human mutation [Hum Mutat] 2014 Dec; Vol. 35 (12), pp. 1436-41.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, Growth Disorders/*genetics , Ubiquitin-Protein Ligases/*genetics, Female ; Growth Disorders/epidemiology ; Humans ; Male ; Pedigree ; Registries ; Spain/epidemiology ; Syndrome