المؤلفون: Diets IJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Molecular Life Sciences, Nijmegen, the Netherlands., Waanders E; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Molecular Life Sciences, Nijmegen, the Netherlands.; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands., Ligtenberg MJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Molecular Life Sciences, Nijmegen, the Netherlands.; Department of Pathology, Radboud University Medical Center, Nijmegen, the Netherlands., van Bladel DAG; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Molecular Life Sciences, Nijmegen, the Netherlands., Kamping EJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Molecular Life Sciences, Nijmegen, the Netherlands., Hoogerbrugge PM; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands., Hopman S; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., Olderode-Berends MJ; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands., Gerkes EH; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands., Koolen DA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Marcelis C; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Santen GW; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands., van Belzen MJ; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands., Mordaunt D; Department of Genetics and Molecular Pathology, SA Pathology, Women's and Children's Hospital, North Adelaide, Australia., McGregor L; Department of Genetics and Molecular Pathology, SA Pathology, Women's and Children's Hospital, North Adelaide, Australia., Thompson E; Department of Genetics and Molecular Pathology, SA Pathology, Women's and Children's Hospital, North Adelaide, Australia., Kattamis A; First Department of Pediatrics, Athens University Medical School, Athens, Greece., Pastorczak A; Department of Pediatrics, Oncology, Hematology and Diabetology, Medical University of Lodz, Lodz, Poland., Mlynarski W; Department of Pediatrics, Oncology, Hematology and Diabetology, Medical University of Lodz, Lodz, Poland., Ilencikova D; 2nd Pediatric Department, Children's University Hospital, Comenius University, Bratislava, Slovakia., van Silfhout AV; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Gardeitchik T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., de Bont ES; Department of Pediatric Oncology and Hematology, Beatrix Children's Hospital, University Medical Center Groningen, Groningen, the Netherlands., Loeffen J; Department of Pediatric Oncology and Hematology, Sophia Children's Hospital, Erasmus Medical Center, Rotterdam, the Netherlands., Wagner A; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, the Netherlands., Mensenkamp AR; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Kuiper RP; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Molecular Life Sciences, Nijmegen, the Netherlands.; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands., Hoogerbrugge N; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Molecular Life Sciences, Nijmegen, the Netherlands., Jongmans MC; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands. Marjolijn.Jongmans@radboudumc.nl.; Radboud Institute for Molecular Life Sciences, Nijmegen, the Netherlands.; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands.; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.

المصدر: Clinical cancer research : an official journal of the American Association for Cancer Research [Clin Cancer Res] 2018 Apr 01; Vol. 24 (7), pp. 1594-1603. Date of Electronic Publication: 2018 Jan 19.

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

بيانات الدورية: Publisher: The Association Country of Publication: United States NLM ID: 9502500 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1557-3265 (Electronic) Linking ISSN: 10780432 NLM ISO Abbreviation: Clin Cancer Res Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Predisposition to Disease/*genetics , Germ-Line Mutation/*genetics , Neoplasms/*genetics, Abnormalities, Multiple/genetics ; Adolescent ; Child ; Child, Preschool ; Congenital Hypothyroidism/genetics ; Craniofacial Abnormalities/genetics ; Exome/genetics ; Face/abnormalities ; Female ; Genotype ; Hand Deformities, Congenital/genetics ; Humans ; Infant ; Intellectual Disability/genetics ; Male ; Micrognathism/genetics ; Neck/abnormalities ; Phenotype ; Rubinstein-Taybi Syndrome/genetics ; Exome Sequencing/methods

SCR Disease Name: Coffin-Siris syndrome; Weaver syndrome

المؤلفون: Postema FA; Department of Paediatric Oncology, Emma Children's Hospital, Academic Medical Centre, Amsterdam, The Netherlands., Hopman SM; Department of Paediatric Oncology, Emma Children's Hospital, Academic Medical Centre, Amsterdam, The Netherlands.; Department of Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands., de Borgie CA; Clinical Research Unit, Academic Medical Centre, Amsterdam, The Netherlands., Hammond P; Nuffield Department of Obstetrics and Gynaecology, University of Oxford, Oxford, UK., Hennekam RC; Department of Paediatrics, Academic Medical Centre, Amsterdam, The Netherlands., Merks JH; Department of Paediatric Oncology, Emma Children's Hospital, Academic Medical Centre, Amsterdam, The Netherlands., Aalfs CM, Anninga JK, Berger LP, Bleeker FE, de Bont ES, de Borgie CA, Dommering CJ, van Eijkelenburg NK, Hammond P, Hennekam RC, van den Heuvel-Eibrink MM, Hopman SM, Jongmans MC, Kors WA, Letteboer TG, Loeffen JL, Merks JH, Olderode-Berends MJ, Postema FA, Wagner A

مؤلفون مشاركون: TuPS study group, TuPS study group

المصدر: BMJ open [BMJ Open] 2017 Jan 20; Vol. 7 (1), pp. e013237. Date of Electronic Publication: 2017 Jan 20.

نوع المنشور: Journal Article; Multicenter Study; Validation Study

بيانات الدورية: Publisher: BMJ Publishing Group Ltd Country of Publication: England NLM ID: 101552874 Publication Model: Electronic Cited Medium: Internet ISSN: 2044-6055 (Electronic) Linking ISSN: 20446055 NLM ISO Abbreviation: BMJ Open Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Diseases, Inborn/*diagnosis , Mass Screening/*methods , Neoplasms/*genetics, Adolescent ; Checklist ; Child ; Child, Preschool ; Female ; Genetic Predisposition to Disease ; Humans ; Infant ; Infant, Newborn ; Male ; Neoplasms/etiology ; Netherlands ; Photography ; Prospective Studies ; Research Design ; Syndrome

المؤلفون: van der Klift HM; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands. hvdklift@lumc.nl.; Department of Human Genetics, Leiden University Medical Centre, Leiden, The Netherlands. hvdklift@lumc.nl., Mensenkamp AR; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Drost M; Department of Human Genetics, Leiden University Medical Centre, Leiden, The Netherlands., Bik EC; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands., Vos YJ; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., Gille HJ; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands., Redeker BE; Department of Clinical Genetics, Academic Medical Centre, Amsterdam, The Netherlands., Tiersma Y; Department of Human Genetics, Leiden University Medical Centre, Leiden, The Netherlands., Zonneveld JB; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands., García EG; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands., Letteboer TG; Department of Medical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands., Olderode-Berends MJ; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., van Hest LP; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands., van Os TA; Department of Clinical Genetics, Academic Medical Centre, Amsterdam, The Netherlands., Verhoef S; Netherlands Cancer Institute, Amsterdam, The Netherlands.; Clinical Genetics Service, Saint Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester, United Kingdom., Wagner A; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands., van Asperen CJ; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands., Ten Broeke SW; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands., Hes FJ; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands., de Wind N; Department of Human Genetics, Leiden University Medical Centre, Leiden, The Netherlands., Nielsen M; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands., Devilee P; Department of Human Genetics, Leiden University Medical Centre, Leiden, The Netherlands., Ligtenberg MJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Pathology, Radboud University Medical Center, Nijmegen, The Netherlands., Wijnen JT; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.; Department of Human Genetics, Leiden University Medical Centre, Leiden, The Netherlands., Tops CM; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.

المصدر: Human mutation [Hum Mutat] 2016 Nov; Vol. 37 (11), pp. 1162-1179. Date of Electronic Publication: 2016 Aug 21.

نوع المنشور: Journal Article

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: Brain Neoplasms/*genetics , Colorectal Neoplasms/*genetics , Colorectal Neoplasms, Hereditary Nonpolyposis/*genetics , DNA Mutational Analysis/*methods , Mismatch Repair Endonuclease PMS2/*genetics , Neoplastic Syndromes, Hereditary/*genetics, Brain Neoplasms/metabolism ; Cohort Studies ; Colorectal Neoplasms/metabolism ; Colorectal Neoplasms, Hereditary Nonpolyposis/metabolism ; Genetic Predisposition to Disease ; Genetic Variation ; Germ-Line Mutation ; Humans ; Microsatellite Instability ; Mismatch Repair Endonuclease PMS2/metabolism ; Neoplastic Syndromes, Hereditary/metabolism ; Netherlands

SCR Disease Name: Turcot syndrome

المؤلفون: Suerink M; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., van der Klift HM; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands., Ten Broeke SW; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Dekkers OM; Department of Clinical Epidemiology, Leiden University Medical Center, Leiden, The Netherlands., Bernstein I; Surgical Gastroenterology Department, Aalborg University Hospital, Aalborg, Denmark.; Danish HNPCC Registry, Copenhagen, Denmark., Capellá Munar G; Laboratori de Recerca Translacional, Catalan Institute of Oncology, Barcelona (ICO-IDIBELL), Spain., Gomez Garcia E; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands., Hoogerbrugge N; Department of Clinical Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands.; Department of Oncology, Radboud University Medical Centre, Nijmegen, The Netherlands., Letteboer TG; Department of Clinical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands., Menko FH; Netherlands Cancer Institute, Amsterdam, The Netherlands., Lindblom A; Department of Clinical Genetics, Karolinska Institutet, Karolinska University Hospital, Solna, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Mensenkamp A; Department of Clinical Genetics, VU Medical Centre, Amsterdam, The Netherlands., Moller P; Department of Medical Genetics, Research Group Inherited Cancer, Oslo University Hospital, Oslo, Norway., van Os TA; Department of Clinical Genetics, Academic Medical Centre, Amsterdam, The Netherlands., Rahner N; Institut für Humangenetik und Anthropologie, Dusseldorf, Germany., Redeker BJ; Department of Clinical Genetics, Academic Medical Centre, Amsterdam, The Netherlands., Olderode-Berends MJ, Spruijt L; Department of Oncology, Radboud University Medical Centre, Nijmegen, The Netherlands., Vos YJ; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., Wagner A; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands., Morreau H; Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands., Hes FJ; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Vasen HF; Department of Gastroenterology, Leiden University Medical Center, Leiden, The Netherlands., Tops CM; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Wijnen JT; Department of Clinical Epidemiology, Leiden University Medical Center, Leiden, The Netherlands., Nielsen M; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2016 Apr; Vol. 18 (4), pp. 405-9. Date of Electronic Publication: 2015 Jun 25.

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

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

مواضيع طبية MeSH: Heterozygote* , Mutation*, Mismatch Repair Endonuclease PMS2/*genetics , Neoplasms/*genetics, Adult ; Age of Onset ; Aged ; Aged, 80 and over ; Cohort Studies ; Female ; Gene Expression ; Genetic Association Studies ; Genetic Predisposition to Disease ; Genotype ; Germ-Line Mutation ; Humans ; Male ; Middle Aged ; Neoplasms/epidemiology ; Risk

المؤلفون: Gerkes EH; Department of Genetics, University of Groningen, University Medical Center Groningen, P.O. Box 30001, 9700 RB, Groningen, The Netherlands. e.h.gerkes@umcg.nl., Fock JM; Department of Neurology, Child neurology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., den Dunnen WF; Department of Pathology and Medical Biology, Pathology division, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., van Belzen MJ; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., van der Lans CA; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Hoving EW; Department of Neurosurgery, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., Fakkert IE; Department of Genetics, University of Groningen, University Medical Center Groningen, P.O. Box 30001, 9700 RB, Groningen, The Netherlands., Smith MJ; Manchester Centre for Genomic Medicine, Institute of Human Development, Manchester Academic Health Sciences Centre (MAHSC), St. Mary's Hospital, University of Manchester, Manchester, UK., Evans DG; Manchester Centre for Genomic Medicine, Institute of Human Development, Manchester Academic Health Sciences Centre (MAHSC), St. Mary's Hospital, University of Manchester, Manchester, UK., Olderode-Berends MJ; Department of Genetics, University of Groningen, University Medical Center Groningen, P.O. Box 30001, 9700 RB, Groningen, The Netherlands.

المصدر: Neurogenetics [Neurogenetics] 2016 Apr; Vol. 17 (2), pp. 83-9. Date of Electronic Publication: 2016 Jan 23.

نوع المنشور: Case Reports; Journal Article; Review

بيانات الدورية: Publisher: Springer-Verlag Country of Publication: United States NLM ID: 9709714 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1364-6753 (Electronic) Linking ISSN: 13646745 NLM ISO Abbreviation: Neurogenetics Subsets: MEDLINE

مواضيع طبية MeSH: Chromosomal Proteins, Non-Histone/*genetics , DNA-Binding Proteins/*genetics , Meningioma/*genetics , Neoplastic Syndromes, Hereditary/*genetics, Adult ; Child ; Female ; Genetic Testing ; Germ-Line Mutation ; Humans ; Male ; Pedigree

SCR Disease Name: Meningioma, familial

المؤلفون: Nieuwenhuis MH; The Netherlands Foundation for the Detection of Hereditary Tumors, Rijnsburgerweg 10, Poortgebouw Zuid, 2333 AA, Leiden, The Netherlands, m.nieuwenhuis@stoet.nl., Kets CM, Murphy-Ryan M, Yntema HG, Evans DG, Colas C, Møller P, Hes FJ, Hodgson SV, Olderode-Berends MJ, Aretz S, Heinimann K, Gómez García EB, Douglas F, Spigelman A, Timshel S, Lindor NM, Vasen HF

المصدر: Familial cancer [Fam Cancer] 2014 Mar; Vol. 13 (1), pp. 57-63.

نوع المنشور: Journal Article; Multicenter Study

بيانات الدورية: Publisher: Springer Country of Publication: Netherlands NLM ID: 100898211 Publication Model: Print Cited Medium: Internet ISSN: 1573-7292 (Electronic) Linking ISSN: 13899600 NLM ISO Abbreviation: Fam Cancer Subsets: MEDLINE

مواضيع طبية MeSH: Hamartoma Syndrome, Multiple/*genetics , Neoplasms/*genetics , PTEN Phosphohydrolase/*genetics, Adolescent ; Adult ; Aged ; Child ; Child, Preschool ; Female ; Gene Frequency ; Genetic Association Studies ; Genetic Predisposition to Disease ; Germ-Line Mutation ; Heterozygote ; Humans ; Infant ; Kaplan-Meier Estimate ; Middle Aged ; Mutation, Missense ; Syndrome ; Thyroid Neoplasms/genetics ; Young Adult

المؤلفون: Nieuwenhuis MH; Netherlands Foundation for the Detection of Hereditary Tumors, Leiden, The Netherlands. m.nieuwenhuis@stoet.nl, Kets CM, Murphy-Ryan M, Colas C, Möller P, Hes FJ, Hodgson SV, Olderode-Berends MJ, Aretz S, Heinimann K, Gomez Garcia EB, Douglas F, Spigelman A, Timshel S, Lindor NM, Vasen HF

المصدر: Colorectal disease : the official journal of the Association of Coloproctology of Great Britain and Ireland [Colorectal Dis] 2012 Sep; Vol. 14 (9), pp. e562-6.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Blackwell Science Ltd Country of Publication: England NLM ID: 100883611 Publication Model: Print Cited Medium: Internet ISSN: 1463-1318 (Electronic) Linking ISSN: 14628910 NLM ISO Abbreviation: Colorectal Dis Subsets: MEDLINE

مواضيع طبية MeSH: Colonic Polyps/*genetics , Colorectal Neoplasms/*genetics , Hamartoma Syndrome, Multiple/*genetics , PTEN Phosphohydrolase/*genetics, Adolescent ; Adult ; Aged ; Child ; Child, Preschool ; Cohort Studies ; Colonic Polyps/etiology ; Colorectal Neoplasms/etiology ; Female ; Genetic Predisposition to Disease ; Germ-Line Mutation ; Hamartoma Syndrome, Multiple/complications ; Humans ; Infant ; Kaplan-Meier Estimate ; Male ; Middle Aged

المؤلفون: Herkert JC; Department of Genetics, University Medical Center Groningen, University of Groningen, P.O. Box 30.001, 9700 RB Groningen, The Netherlands. j.c.herkert@medgen.umcg.nl, Niessen RC, Olderode-Berends MJ, Veenstra-Knol HE, Vos YJ, van der Klift HM, Scheenstra R, Tops CM, Karrenbeld A, Peters FT, Hofstra RM, Kleibeuker JH, Sijmons RH

المصدر: European journal of cancer (Oxford, England : 1990) [Eur J Cancer] 2011 May; Vol. 47 (7), pp. 965-82. Date of Electronic Publication: 2011 Mar 04.

نوع المنشور: Case Reports; Journal Article; Review

بيانات الدورية: Publisher: Elsevier Science Ltd Country of Publication: England NLM ID: 9005373 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-0852 (Electronic) Linking ISSN: 09598049 NLM ISO Abbreviation: Eur J Cancer Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, Adenosine Triphosphatases/*genetics , DNA Repair Enzymes/*genetics , DNA-Binding Proteins/*genetics , Intestinal Neoplasms/*genetics , Intestinal Polyposis/*genetics, Adult ; Base Pair Mismatch ; Child ; Child, Preschool ; DNA Repair ; Family Health ; Female ; Follow-Up Studies ; Gene Deletion ; Germ-Line Mutation ; Humans ; Immunohistochemistry/methods ; Male ; Microsatellite Instability ; Microsatellite Repeats ; Mismatch Repair Endonuclease PMS2 ; Syndrome

المؤلفون: Van Reeuwijk J; Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands., Olderode-Berends MJ, Van den Elzen C, Brouwer OF, Roscioli T, Van Pampus MG, Scheffer H, Brunner HG, Van Bokhoven H, Hol FA

المصدر: Clinical genetics [Clin Genet] 2010 Sep; Vol. 78 (3), pp. 275-81. Date of Electronic Publication: 2010 Feb 11.

نوع المنشور: Case Reports; 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: Mutation*, Codon, Initiator/*genetics , Proteins/*genetics , Walker-Warburg Syndrome/*genetics, Base Sequence ; DNA Mutational Analysis ; Fatal Outcome ; Female ; Homozygote ; Humans ; Infant, Newborn ; Male ; Pedigree ; Pentosyltransferases ; Severity of Illness Index ; Siblings ; Walker-Warburg Syndrome/pathology

المؤلفون: van Silfhout AT; Department of Genetics, University Medical Centre Groningen, University of Groningen, The Netherlands., van den Akker PC, Dijkhuizen T, Verheij JB, Olderode-Berends MJ, Kok K, Sikkema-Raddatz B, van Ravenswaaij-Arts CM

المصدر: European journal of human genetics : EJHG [Eur J Hum Genet] 2009 Nov; Vol. 17 (11), pp. 1432-8. Date of Electronic Publication: 2009 Apr 29.

نوع المنشور: Case Reports; Journal Article

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: Chromosome Aberrations* , Chromosomes, Human, Pair 7*, Abnormalities, Multiple/*genetics , Foot Deformities, Congenital/*genetics , Hand Deformities, Congenital/*genetics, Female ; Humans ; Infant ; Infant, Newborn ; Male