Results 131 to 140 of about 18,812 (235)

Case Report: Early infantile drug-resistant epilepsy and gastrointestinal dysmotility associated with a <i>de novo GNAO1</i> variant and a 16p13.11 microdeletion. [PDF]

Front Pediatr
Liu X, Luo R, Wang J, Chen X, Deng Y.
europepmc   +1 more source

Screening of Y chromosome microdeletion which contains AZF regions in 71 Turkish azoospermic men

, 2004
Screening of Y chromosome microdeletion which contains AZF regions in 71 turkish azoospermic men: In 71 Turkish men Y chromosome microdeletions have been studied before intracytoplasmic sperm injection (ICSI).
Tavmergen, E, Ozkinay, F, Okutman-Emonts, O, Özkınay, F, Tavmergen-Goker, EN, Pehlivan, S, PEHLİVAN, Sacide   +6 more
core  

Prenatal diagnosis and estimated penetrance of 15q11.2 BP1-BP2 microdeletion syndrome in a Chinese cohort: a retrospective study and literature review. [PDF]

Hum Genomics
Yu Y, Li M, Chang J, Zhang H, Zhou X, Jiang Y, Hao N, Yang X, Yin K, Lü Y, Qi Q.   +10 more
europepmc   +1 more source

USP34 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes. [PDF]

Clin Genet
Wigoda H, Khan A, Mendelsohn BA, Miyake N, Okamoto N, Matsumoto N, Knijnenburg PJC, van Hagen JM, van de Kamp J, Waisfisz Q, Webb BD.   +10 more
europepmc   +1 more source

VEGFA polymorphisms and cardiovascular anomalies in 22q11 microdeletion syndrome: a case-control and family-based study

, 2009
Microdeletion 22q11 in humans causes velocardiofacial and DiGeorge syndromes. Most patients share a common 3Mb deletion, but the clinical manifestations are very heterogeneous.
JUAN FRANCISCO CALDERÓN, MARIANA ARACENA, TERESA ARAVENA, PATRICIA SANZ, M. LUISA GUZMÁN, CARMEN PAZ ASTETE, MARTA ARRIAZA, ALONSO R PUGA, GABRIELA M REPETTO   +8 more
core  

Prenatal genetic findings and pregnancy outcomes in fetuses with congenital heart disease: a decade-long retrospective analysis at a tertiary hospital. [PDF]

Front Med (Lausanne)
Chen Q, Peng L, Cai Y, Qiu X, Wu Q, Lyu G, Ye F, Ling W.   +7 more
europepmc   +1 more source

<i>16p11.2</i> microdeletion enhances gene expression variability between human IPSC-derived forebrain interneuron progenitor cells in culture. [PDF]

Front Mol Neurosci
Yang Y, Quintana Urzainqui I, Pratt T.
europepmc   +1 more source

Prevalence of neuropsychiatric and seizure disorders in neurofibromatosis type 1: a systematic review and meta-analysis. [PDF]

J Neurol
Moreno-Charco E, Pascual-Morena C, Álvarez-Bueno C, Zuheros-Lara B, Martínez-García I, Martínez-Sánchez P, Contreras-Molina M, Patiño-Cardona S.   +7 more
europepmc   +1 more source

Fetal Compound Heterozygous Microdeletion at 7q31.1 Involving IMMP2L: Case Report and Literature Review. [PDF]

Mol Genet Genomic Med
Chen C, Song Q, Jiang X, Tang T, Zhang X, Yang J.   +5 more
europepmc   +1 more source

Prenatal diagnosis and pregnancy outcome of fetuses with 15q11.2 BP1-BP2 microdeletion syndrome: a single-center retrospective study of 34 cases. [PDF]

BMC Pediatr
Chen Y, Zhang Y.
europepmc   +1 more source