المؤلفون: Wang MJ; Department of Obstetrics and Gynecology, Division of Maternal Fetal Medicine, Beth Israel Deaconess Medical Center, Boston, Massachusetts, USA., Febres-Cordero DA; Department of Obstetrics and Gynecology, Division of Maternal Fetal Medicine, Beth Israel Deaconess Medical Center, Boston, Massachusetts, USA., Poorvu T; Department of General Surgery, Maternal Fetal Care Center, Boston Children's Hospital, Boston, Massachusetts, USA., Delerme P; Department of Obstetrics and Gynecology, Division of Maternal Fetal Medicine, Beth Israel Deaconess Medical Center, Boston, Massachusetts, USA., Hecht J; Department of Pathology, Beth Israel Deaconess Medical Center, Boston, Massachusetts, USA., Oyelese Y; Department of Obstetrics and Gynecology, Division of Maternal Fetal Medicine, Beth Israel Deaconess Medical Center, Boston, Massachusetts, USA., O'Brien B; Department of Obstetrics and Gynecology, Division of Maternal Fetal Medicine, Beth Israel Deaconess Medical Center, Boston, Massachusetts, USA.; Department of General Surgery, Maternal Fetal Care Center, Boston Children's Hospital, Boston, Massachusetts, USA., Ferrés MA; Department of Obstetrics and Gynecology, Division of Maternal Fetal Medicine, Beth Israel Deaconess Medical Center, Boston, Massachusetts, USA.

المصدر: Prenatal diagnosis [Prenat Diagn] 2024 Aug; Vol. 44 (9), pp. 1111-1114. Date of Electronic Publication: 2024 Jun 14.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Wiley Country of Publication: England NLM ID: 8106540 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0223 (Electronic) Linking ISSN: 01973851 NLM ISO Abbreviation: Prenat Diagn Subsets: MEDLINE

مواضيع طبية MeSH: Abnormalities, Multiple*/genetics , Abnormalities, Multiple*/diagnostic imaging , Abnormalities, Multiple*/diagnosis , Facies* , Intellectual Disability*/genetics , Intellectual Disability*/diagnosis , Intellectual Disability*/diagnostic imaging , Transcription Factors*/genetics, Adult ; Female ; Humans ; Pregnancy ; Exome Sequencing ; Foot Deformities, Congenital ; Hypotrichosis ; Sacrum/abnormalities ; Sacrum/diagnostic imaging ; Ultrasonography, Prenatal

SCR Disease Name: Nicolaides Baraitser syndrome

المؤلفون: Barington M; Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark., Bak M; Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark., Kjartansdóttir KR; Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark., Hansen TVO; Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark.; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark., Birkedal U; Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark., Østergaard E; Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark.; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark., Hove HB; Center for Rare Diseases, Department of Paediatrics and Adolescent Medicine, Copenhagen University Hospital, Copenhagen, Denmark.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Aug; Vol. 194 (8), pp. e63581. Date of Electronic Publication: 2024 Apr 11.

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

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: Alu Elements*/genetics , Microcephaly*/genetics , Microcephaly*/pathology , Zinc Finger E-box Binding Homeobox 2*/genetics , Hirschsprung Disease*/genetics , Hirschsprung Disease*/pathology , Intellectual Disability*/genetics , Intellectual Disability*/pathology , Facies*, Humans ; Male ; Child ; Phenotype ; Mutagenesis, Insertional/genetics ; High-Throughput Nucleotide Sequencing ; Exons/genetics

SCR Disease Name: Mowat-Wilson syndrome

المؤلفون: Caraffi SG; Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, 42122, Reggio Emilia, Italy., van der Laan L; Department of Human Genetics, Amsterdam Reproduction & Development Research Institute, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands., Rooney K; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON, Canada.; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada., Trajkova S; Department of Medical Sciences, University of Torino, Torino, Italy.; Molecular Biotechnology Center 'Guido Tarone', University of Torino, 10126, Torino, Italy., Zuntini R; Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, 42122, Reggio Emilia, Italy., Relator R; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON, Canada., Haghshenas S; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON, Canada., Levy MA; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON, Canada., Baldo C; Laboratory of Human Genetics, IRCCS Istituto Giannina Gaslini, Genova, Italy., Mandrile G; Medical Genetics Unit and Thalassemia Center, San Luigi University Hospital, University of Torino, 10043, Orbassano (Torino), Italy., Lauzon C; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON, Canada., Cordelli DM; IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Neuropsichiatria dell'Età Pediatrica, 40139, Bologna, Italy.; Department of Medical and Surgical Sciences (DIMEC), University of Bologna, 40126, Bologna, Italy., Ivanovski I; Institute of Medical Genetics, University of Zürich, Zürich, Switzerland., Fetta A; IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Neuropsichiatria dell'Età Pediatrica, 40139, Bologna, Italy.; Department of Medical and Surgical Sciences (DIMEC), University of Bologna, 40126, Bologna, Italy., Sukarova E; Department of Endocrinology and Genetics, University Clinic for Pediatric Diseases, Faculty of Medicine, Ss. Cyril and Methodius University in Skopje, 1000, Skopje, Republic of North Macedonia., Brusco A; Department of Medical Sciences, University of Torino, Torino, Italy.; Medical Genetics Unit, Città della Salute e della Scienza University Hospital, Torino, Italy., Pavinato L; Department of Medical Sciences, University of Torino, Torino, Italy.; Molecular Biotechnology Center 'Guido Tarone', University of Torino, 10126, Torino, Italy., Pullano V; Department of Medical Sciences, University of Torino, Torino, Italy.; Molecular Biotechnology Center 'Guido Tarone', University of Torino, 10126, Torino, Italy., Zollino M; Institute of Genomic Medicine, Department of Life Sciences and Public Health, 'Sacro Cuore' Catholic University of Rome, 00168, Rome, Italy., McConkey H; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON, Canada.; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada., Tartaglia M; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy., Ferrero GB; Department of Clinical and Biological Science, University of Torino, Torino, Italy., Sadikovic B; Department of Human Genetics, Amsterdam Reproduction & Development Research Institute, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands. bekim.sadikovic@lhsc.on.ca.; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON, Canada. bekim.sadikovic@lhsc.on.ca.; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada. bekim.sadikovic@lhsc.on.ca., Garavelli L; Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, 42122, Reggio Emilia, Italy. livia.garavelli@ausl.re.it.

المصدر: European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Jun; Vol. 32 (6), pp. 619-629. Date of Electronic Publication: 2024 Feb 13.

نوع المنشور: 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: DNA Methylation* , Intellectual Disability*/genetics , Intellectual Disability*/diagnosis , Intellectual Disability*/pathology , Zinc Finger E-box Binding Homeobox 2*/genetics , Zinc Finger E-box Binding Homeobox 2*/metabolism , Microcephaly*/genetics , Microcephaly*/diagnosis , Microcephaly*/pathology , Hirschsprung Disease*/genetics , Hirschsprung Disease*/diagnosis , Hirschsprung Disease*/pathology , Homeodomain Proteins*/genetics , Repressor Proteins*/genetics , Facies*, Humans ; Female ; Male ; Child ; Child, Preschool ; Adolescent ; CpG Islands

SCR Disease Name: Mowat-Wilson syndrome

المؤلفون: Arai Y; Division of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, 36-1 Nishi-Cho, Yonago, 683-8504, Tottori, Japan., Okanishi T; Division of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, 36-1 Nishi-Cho, Yonago, 683-8504, Tottori, Japan. okanishipediatrics@gmail.com., Okazaki T; Department of Clinical Genetics, Tottori University Hospital, Yonago, Japan., Awano H; Department of Clinical Genetics, Tottori University Hospital, Yonago, Japan.; Organization for Reserch Initiative and Promotion, Tottori University, Yonago, Japan., Seyama R; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Department of Obstetrics and Gynecology, Juntendo University, Tokyo, Japan., Uchiyama Y; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Department of Rare Disease Genomics, Yokohama City University Hospital, Yokohama, Japan., Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Tamasaki A; Hakuai Child Development, Home Care Support Clinic, Tottori, Japan., Maegaki Y; Division of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, 36-1 Nishi-Cho, Yonago, 683-8504, Tottori, Japan.

المصدر: BMC pediatrics [BMC Pediatr] 2024 May 06; Vol. 24 (1), pp. 308. Date of Electronic Publication: 2024 May 06.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 100967804 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2431 (Electronic) Linking ISSN: 14712431 NLM ISO Abbreviation: BMC Pediatr Subsets: MEDLINE

مواضيع طبية MeSH: Feeding and Eating Disorders*/etiology , Feeding and Eating Disorders*/complications , Feeding and Eating Disorders*/diagnosis , Abnormalities, Multiple* , Facies* , Neurodevelopmental Disorders*, Humans ; Female ; Adolescent ; Repressor Proteins/genetics

المؤلفون: Woods E; Sheffield Clinical Genetics Service, Sheffield Children's Hospital, Sheffield, UK.; Division of Clinical Medicine, School of Medicine and Population Health, University of Sheffield, Sheffield, UK., Holmes N; Sheffield Diagnostic Genetics Service, Sheffield Children's Hospital, Sheffield, UK., Albaba S; Sheffield Diagnostic Genetics Service, Sheffield Children's Hospital, Sheffield, UK., Evans IR; Division of Clinical Medicine, School of Medicine and Population Health, University of Sheffield, Sheffield, UK.; The Bateson Centre, University of Sheffield, Sheffield, UK., Balasubramanian M; Sheffield Clinical Genetics Service, Sheffield Children's Hospital, Sheffield, UK.; Division of Clinical Medicine, School of Medicine and Population Health, University of Sheffield, Sheffield, UK.; The Bateson Centre, University of Sheffield, Sheffield, UK.

المصدر: Clinical genetics [Clin Genet] 2024 May; Vol. 105 (5), pp. 470-487. Date of Electronic Publication: 2024 Feb 29.

نوع المنشور: Journal Article; Review

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: Developmental Disabilities*/genetics , Intellectual Disability*/genetics , Abnormalities, Multiple* , Facies* , Neurodevelopmental Disorders*, Child ; Humans ; Transcription Factors/genetics ; Phenotype ; Syndrome ; Repressor Proteins/genetics

المؤلفون: Jyothi S; Department of Neonatology, Seth G.S. Medical College and King Edward Memorial Hospital, Mumbai, India., Prashanth RR; Department of Neonatology, Seth G.S. Medical College and King Edward Memorial Hospital, Mumbai, India., Nair S; Department of Neonatology, Seth G.S. Medical College and King Edward Memorial Hospital, Mumbai, India., Haribalakrishna A; Department of Neonatology, Seth G.S. Medical College and King Edward Memorial Hospital, Mumbai, India.

المصدر: NeoReviews [Neoreviews] 2024 May 01; Vol. 25 (5), pp. e286-e289.

نوع المنشور: Journal Article; Case Reports

بيانات الدورية: Publisher: American Academy of Pediatrics Country of Publication: United States NLM ID: 101085360 Publication Model: Print Cited Medium: Internet ISSN: 1526-9906 (Electronic) Linking ISSN: 15269906 NLM ISO Abbreviation: Neoreviews Subsets: MEDLINE

مواضيع طبية MeSH: Facies*, Humans ; Infant, Newborn ; Cutis Laxa/diagnosis ; Cutis Laxa/congenital

المؤلفون: Albakheet A; Translational Genomics Department, Center for Genomic Medicine., Almuallami D; Medical Genomics Department, Center for Genomic Medicine., Almass R; Medical Genomics Department, Center for Genomic Medicine., Qari A; Medical Genomics Department, Center for Genomic Medicine., Kenana R; Translational Genomics Department, Center for Genomic Medicine., AlQudairy H; Translational Genomics Department, Center for Genomic Medicine., Huma R; Clinical Studies and Empirical Ethics Department, King Faisal Specialist Hospital and Research Center (KFSHRC), Riyadh, Kingdom of Saudi Arabia., Binomar H; Medical Genomics Department, Center for Genomic Medicine., Wakil SM; Laboratory of Neurogenetics, National Institutes of Health, Rockville, Maryland, USA., Alowain M; Medical Genomics Department, Center for Genomic Medicine., Colak D; Molecular Oncology Department, KFSHRC, Riyadh, Kingdom of Saudi Arabia., Kaya N; Translational Genomics Department, Center for Genomic Medicine., AlSayed MD; Medical Genomics Department, Center for Genomic Medicine.; College of Medicine, Alfaisal University, Riyadh, Kingdom of Saudi Arabia.

المصدر: Clinical dysmorphology [Clin Dysmorphol] 2024 Apr 01; Vol. 33 (2), pp. 55-62. Date of Electronic Publication: 2024 Feb 15.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: England NLM ID: 9207893 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1473-5717 (Electronic) Linking ISSN: 09628827 NLM ISO Abbreviation: Clin Dysmorphol Subsets: MEDLINE

مواضيع طبية MeSH: Intellectual Disability*/genetics , Microcephaly*/genetics , Eye Abnormalities* , Limb Deformities, Congenital* , Facies*, Humans ; Consanguinity ; Mutation ; Pedigree ; Ubiquitin-Protein Ligases/genetics

SCR Disease Name: Kaufman oculocerebrofacial syndrome

المؤلفون: Kuroda Y; Division of Medical Genetics, Kanagawa Children's Medical Center., Saito Y; Division of Medical Genetics, Kanagawa Children's Medical Center., Enomoto Y; Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama, Kanagawa, Japan., Naruto T; Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama, Kanagawa, Japan., Kurosawa K; Division of Medical Genetics, Kanagawa Children's Medical Center.

المصدر: Clinical dysmorphology [Clin Dysmorphol] 2024 Apr 01; Vol. 33 (2), pp. 75-78. Date of Electronic Publication: 2024 Jan 05.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: England NLM ID: 9207893 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1473-5717 (Electronic) Linking ISSN: 09628827 NLM ISO Abbreviation: Clin Dysmorphol Subsets: MEDLINE

مواضيع طبية MeSH: Hernias, Diaphragmatic, Congenital*/diagnosis , Hernias, Diaphragmatic, Congenital*/genetics , Nervous System Malformations* , Growth Disorders* , Hydrocephalus* , Facies* , Obesity* , Mental Retardation, X-Linked*, Cerebellum/*abnormalities, Humans ; Developmental Disabilities

SCR Disease Name: Cerebellar Hypoplasia; Clark-Baraitser syndrome

المؤلفون: Gorrieri G; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Genoa, Italy., Tamburro S; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Genoa, Italy., Baldassari S; Unit of Medical Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Guerrisi S; Unit of Medical Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Zara F; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Genoa, Italy; Unit of Medical Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Ricci E; Child Neurology Unit, Department of Health Sciences, Epilepsy Center, San Paolo Hospital, University of Milan, Milan, Italy., Maria Cordelli D; IRCCS Istituto delle Scienze Neurologiche di Bologna, U.O.C. Neuropsichiatria dell'età Pediatrica, Dipartimento di Scienze Mediche e Chirurgiche (DIMEC), Alma Mater Studiorum, Università di Bologna, Bologna, Italy., Scudieri P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Genoa, Italy; Unit of Medical Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy. Electronic address: paolo.scudieri@unige.it., Musante I; Unit of Medical Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy.

المصدر: Stem cell research [Stem Cell Res] 2024 Apr; Vol. 76, pp. 103333. Date of Electronic Publication: 2024 Feb 09.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: England NLM ID: 101316957 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1876-7753 (Electronic) Linking ISSN: 18735061 NLM ISO Abbreviation: Stem Cell Res Subsets: MEDLINE

مواضيع طبية MeSH: Intellectual Disability*/complications , Induced Pluripotent Stem Cells* , Hirschsprung Disease* , Microcephaly* , Facies*, Humans ; Zinc Finger E-box Binding Homeobox 2/genetics ; Mutation/genetics ; Transcription Factors/genetics ; Homeodomain Proteins/genetics

SCR Disease Name: Mowat-Wilson syndrome

المؤلفون: Goldfarb Yaacobi R; Genetics Institute, Meir Medical Center, Kfar Saba, Israel., Sukenik Halevy R; Genetics Institute, Meir Medical Center, Kfar Saba, Israel.; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Apr; Vol. 194 (4), pp. e63503. Date of Electronic Publication: 2023 Dec 20.

نوع المنشور: Journal Article

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: Siblings* , Intellectual Disability*/diagnosis , Intellectual Disability*/genetics , Intellectual Disability*/pathology , Developmental Disabilities* , Hypertelorism* , Facies*, Humans ; Male ; Female ; Iran ; Phenotype ; DNA Helicases/genetics ; Mi-2 Nucleosome Remodeling and Deacetylase Complex/genetics

SCR Disease Name: Snijders Blok-Campeau syndrome