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http://hdl.handle.net/11452/29718
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DC Field | Value | Language |
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dc.date.accessioned | 2022-12-07T06:06:06Z | - |
dc.date.available | 2022-12-07T06:06:06Z | - |
dc.date.issued | 2019-09-14 | - |
dc.identifier.citation | Shaheen, R. vd. (2019). ''Genomic and phenotypic delineation of congenital microcephaly''. Genetics in Medicine, 21(3), 545-552. | en_US |
dc.identifier.issn | 1098-3600 | - |
dc.identifier.issn | 1530-0366 | - |
dc.identifier.uri | https://doi.org/10.1038/s41436-018-0140-3 | - |
dc.identifier.uri | https://www.sciencedirect.com/science/article/pii/S1098360021010431 | - |
dc.identifier.uri | http://hdl.handle.net/11452/29718 | - |
dc.description | Çalışmada 47 yazar bulunmaktadır. Bu yazarlardan sadece Bursa Uludağ Üniversitesi mensuplarının girişleri yapılmıştır. | tr_TR |
dc.description.abstract | Purpose: Congenital microcephaly (CM) is an important birth defect with long term neurological sequelae. We aimed to perform detailed phenotypic and genomic analysis of patients with Mendelian forms of CM. Methods: Clinical phenotyping, targeted or exome sequencing, and autozygome analysis. Results: We describe 150 patients (104 families) with 56 Mendelian forms of CM. Our data show little overlap with the genetic causes of postnatal microcephaly. We also show that a broad definition of primary microcephaly -as an autosomal recessive form of nonsyndromic CM with severe postnatal deceleration of occipitofrontal circumference-is highly sensitive but has a limited specificity. In addition, we expand the overlap between primary microcephaly and microcephalic primordial dwarfism both clinically (short stature in >52% of patients with primary microcephaly) and molecularly (e.g., we report the first instance of CEP135-related microcephalic primordial dwarfism). We expand the allelic and locus heterogeneity of CM by reporting 37 novel likely disease-causing variants in 27 disease genes, confirming the candidacy of ANKLE2, YARS, FRMD4A, and THG1L, and proposing the candidacy of BPTF, MAP1B, CCNH, and PPFIBP1. Conclusion: Our study refines the phenotype of CM, expands its genetics heterogeneity, and informs the workup of children born with this developmental brain defect. | en_US |
dc.description.sponsorship | King Salman Center for Disability Research | en_US |
dc.description.sponsorship | Saudi Human Genome Program | en_US |
dc.description.sponsorship | Howard Hughes Medical Institute | en_US |
dc.description.sponsorship | National Institute of Neurological Disorders and Stroke | en_US |
dc.description.sponsorship | Manton Center for Orphan Disease Research, Boston Children's Hospital | en_US |
dc.description.sponsorship | King Abdullah University of Science and Technology | en_US |
dc.description.sponsorship | King Abdulaziz City for Science and Technology | en_US |
dc.description.sponsorship | Deanship of Scientific Research, King Saud University | en_US |
dc.language.iso | en | en_US |
dc.publisher | Elsevier Science | en_US |
dc.rights | info:eu-repo/semantics/openAccess | en_US |
dc.rights | Atıf Gayri Ticari Türetilemez 4.0 Uluslararası | tr_TR |
dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/4.0/ | * |
dc.subject | Autozygome | en_US |
dc.subject | Primary microcephaly | en_US |
dc.subject | Dwarfism | en_US |
dc.subject | Cntrl | en_US |
dc.subject | Transfer-rna | en_US |
dc.subject | Intellectual disability | en_US |
dc.subject | Recessive mutations | en_US |
dc.subject | Truncating mutation | en_US |
dc.subject | Mechanisms | en_US |
dc.subject | Families | en_US |
dc.subject | Cep135 | en_US |
dc.subject | Gene | en_US |
dc.subject | Form | en_US |
dc.subject | Genetics & heredity | en_US |
dc.subject.mesh | Adult | en_US |
dc.subject.mesh | Child | en_US |
dc.subject.mesh | Preschool | en_US |
dc.subject.mesh | Child | en_US |
dc.subject.mesh | Dwarfism | en_US |
dc.subject.mesh | Female | en_US |
dc.subject.mesh | Genomics | en_US |
dc.subject.mesh | Genotype | en_US |
dc.subject.mesh | Humans | en_US |
dc.subject.mesh | Infant | en_US |
dc.subject.mesh | Infant, newborn | en_US |
dc.subject.mesh | Male | en_US |
dc.subject.mesh | Microcephaly | en_US |
dc.subject.mesh | Mutation | en_US |
dc.subject.mesh | Pedigree | en_US |
dc.subject.mesh | Phenotype | en_US |
dc.subject.mesh | Whole exome sequencing | en_US |
dc.title | Genomic and phenotypic delineation of congenital microcephaly | en_US |
dc.type | Article | en_US |
dc.identifier.wos | 000460274400009 | tr_TR |
dc.identifier.scopus | 2-s2.0-85053661261 | tr_TR |
dc.relation.publicationcategory | Makale - Uluslararası Hakemli Dergi | tr_TR |
dc.contributor.department | Bursa Uludağ Üniversitesi/Tıp Fakültesi/Temel Tıp Bilimleri Anabilim Dalı. | tr_TR |
dc.identifier.startpage | 545 | tr_TR |
dc.identifier.endpage | 552 | tr_TR |
dc.identifier.volume | 21 | tr_TR |
dc.identifier.issue | 3 | tr_TR |
dc.relation.journal | Genetics in Medicine | en_US |
dc.contributor.buuauthor | Şahintürk, Serdar | - |
dc.relation.collaboration | Yurt dışı | tr_TR |
dc.relation.collaboration | Sanayi | tr_TR |
dc.identifier.pubmed | 30214071 | tr_TR |
dc.subject.wos | Genetics & heredity | en_US |
dc.indexed.wos | SCIE | en_US |
dc.indexed.scopus | Scopus | en_US |
dc.indexed.pubmed | PubMed | en_US |
dc.wos.quartile | Q1 | en_US |
dc.contributor.scopusid | 57214054591 | tr_TR |
dc.subject.scopus | Autosomal Recessive Primary Microcephaly; Microcephaly; Gene | en_US |
dc.subject.emtree | Allele | en_US |
dc.subject.emtree | Ankle2 gene | en_US |
dc.subject.emtree | Article | en_US |
dc.subject.emtree | Bptf gene | en_US |
dc.subject.emtree | Ccnh gene | en_US |
dc.subject.emtree | Cep135 gene | en_US |
dc.subject.emtree | Child | en_US |
dc.subject.emtree | Controlled study | en_US |
dc.subject.emtree | Disease severity | en_US |
dc.subject.emtree | Dwarfism | en_US |
dc.subject.emtree | Frmd4a gene | en_US |
dc.subject.emtree | Gene | en_US |
dc.subject.emtree | Gene locus | en_US |
dc.subject.emtree | Genetic heterogeneity | en_US |
dc.subject.emtree | Genetic regulation | en_US |
dc.subject.emtree | Genetic variability | en_US |
dc.subject.emtree | Genome analysis | en_US |
dc.subject.emtree | Genomics | en_US |
dc.subject.emtree | Human | en_US |
dc.subject.emtree | Major clinical study | en_US |
dc.subject.emtree | Map1b gene | en_US |
dc.subject.emtree | Microcephaly | en_US |
dc.subject.emtree | Nuclear magnetic resonance imaging | en_US |
dc.subject.emtree | Phenotype | en_US |
dc.subject.emtree | Ppfibf1 gene | en_US |
dc.subject.emtree | Short stature | en_US |
dc.subject.emtree | Thg1L gene | en_US |
dc.subject.emtree | Whole exome sequencing | en_US |
dc.subject.emtree | Yars gene | en_US |
dc.subject.emtree | Adult | en_US |
dc.subject.emtree | Female | en_US |
dc.subject.emtree | Genetics | en_US |
dc.subject.emtree | Genomics | en_US |
dc.subject.emtree | Genotype | en_US |
dc.subject.emtree | Infant | en_US |
dc.subject.emtree | Male | en_US |
dc.subject.emtree | Microcephaly | en_US |
dc.subject.emtree | Mutation | en_US |
dc.subject.emtree | Newborn | en_US |
dc.subject.emtree | Pathophysiology | en_US |
dc.subject.emtree | Pedigree | en_US |
dc.subject.emtree | Phenotype | en_US |
dc.subject.emtree | Preschool child | en_US |
dc.subject.emtree | Procedures | en_US |
Appears in Collections: | PubMed Scopus Web of Science |
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