Results 111 to 120 of about 18,812 (235)

Haploinsufficiency of insulin gene enhancer protein 1 (ISL1) is associated with d‐transposition of the great arteries

Molecular Genetics & Genomic Medicine, 2014
Congenital heart defects are the most common malformation, and are the foremost causes of mortality in the first year of life. Among congenital heart defects, conotruncal defects represent about 20% and are severe malformations with significant morbidity.
Kazutoyo Osoegawa, Kathleen Schultz, Kenneth Yun, Nebil Mohammed, Gary M. Shaw, Edward J. Lammer   +5 more
doaj   +1 more source

GABAergic Network Dysregulation in Alcohol Use Disorder: Receptor–Transporter Interactions Driving the Transition From Goal‐Directed to Compulsive Behaviour

Addiction Biology, Volume 31, Issue 11, November 2026.
Astrocytic GAT3 regulates ambient GABA levels in the globus pallidus externus (GPe). Reduced GAT3 function enhances extrasynaptic GABAergic signalling and disrupts subthalamic nucleus (STN) regulation and cortical signal fidelity.ABSTRACTAlcohol use disorder (AUD) is characterized by a shift from controlled, goal‐directed drinking to compulsive ...
Hannah Aranda, Nathan Jones, Humza Haroon, Doo‐Sup Choi   +3 more
wiley   +1 more source

Independent of DAZL-T54A variant and AZF microdeletion in a sample of Egyptian patients with idiopathic non-obstructed azoospermia

, 2018
Mohammed M El Shafae,1 Jehan H Sabry,1 Eman G Behiry,1 Hanan H Sabry,2 Mona A Salim,1 Alaaeldin G Fayez3 1Department of Clinical and Chemical Pathology, Benha Faculty of Medicine, Benha University, Benha, Egypt; 2Department of Dermatology, Venereology ...
Salim MA, Sabry HH, Fayez AG, Sabry JH, Behiry EG, El Shafae MM   +5 more
core  

Testicular histopathology and its association with germ cell numbers, serum concentrations of reproductive hormones, and semen quality

Andrology, Volume 14, Issue 8, Page 2388-2400, November 2026.
Abstract Background It is well‐established that spermatogenesis, semen quality, and reproductive hormones are interlinked. It is, however, less well‐described how various specific testicular histopathologies are linked to reproductive hormones and semen quality.
Gülizar Saritas, Nina Mørup, Trine H. Johannsen, Anders Juul, Lise Aksglaede, Sofia B. Winge, Kristian Almstrup   +6 more
wiley   +1 more source

An Illustrative Case of Neurofibromatosis Type 1 and NF1 Microdeletion

, 2010
We report on a patient with <i>NF1</i> microdeletion and clinical manifestations that fulfill the diagnostic criteria for neurofibromatosis type 1 but also presenting features reminiscent of Proteus syndrome.
P.A. Otto, S.S. Costa, A.M. Vianna-Morgante, D.R. Bertola, C.A. Kim, F.M. Pereira, L.A. Praxedes, J.F. Mazzeu   +7 more
core   +1 more source

Chromosomal and genetic anomalies in fetuses with nuchal translucency between 3.0 and 3.4 mm: A systematic review and meta‐analysis

Acta Obstetricia et Gynecologica Scandinavica, Volume 105, Issue 11, Page 2148-2157, November 2026.
Fetuses with a nuchal translucency between 3.0 and 3.4 mm showed a high rate of chromosomal anomalies and copy number variants, most of which could potentially be detected through cell‐free DNA. Abstract Introduction To report the prevalence of chromosomal anomalies in fetuses with a nuchal translucency (NT) between 3.0 and 3.4 mm and to assess the ...
Arianna Carta, Lorenza Della Valle, Giuseppe Rizzo, Ilenia Mappa, Giuseppe Maruotti, Maria Elena Flacco, Lamberto Manzoli, Gennaro Cormio, Asma Khalil, Alberto Galindo, Francesco D'Antonio   +10 more
wiley   +1 more source

Effectiveness of Recombinant Human Growth Hormone Therapy in Small‐for‐Gestational‐Age Children With Short Stature: A Stratified Analysis Based on Genetic Variant Status

Clinical Endocrinology, Volume 105, Issue 5, Page 556-564, November 2026.
ABSTRACT Objective This study aimed to evaluate the impact of pathogenic genetic variants on growth outcomes following 3 years of recombinant human growth hormone (rhGH) therapy in children born small for gestational age with persistent short stature (SGA‐SS). Design A retrospective cohort study.
Sanghee Park, Yena Lee, Hwal Rim Jeong, Eun Young Kim, Eu‐seon Noh, Hye young Jin, Eun Byul Kwon, Hye Jin Lee, Young‐Jun Seo, Young Suk Shim, Su Jin Kim, Ji‐Eun Lee, Nan Young Kim, Sangkyoon Hong, Min Jae Kang, Il Tae Hwang   +15 more
wiley   +1 more source

A novel de novo paracentric inversion [inv(20)(q13.1q13.3)] accompanied by an 11q14.3-q21 microdeletion in a pediatric patient with an intellectual disability

Balkan Journal of Medical Genetics, 2018
A novel de novo paracentric inversion of the long arm of chromosome 20 [inv(20)(q13.1q13.3)], detected by conventional karyotyping in a 14-year-old boy with mental retardation is described. Further investigation by array comparative genomic hybridization
Zachaki S, Kouvidi E, Mitrakos A, Lazaros L, Pantou A, Mavrou A, Tzetis M, Manola KN   +7 more
doaj   +1 more source

Genetics in Heterotaxy: A Case Series and Literature Review on DNAH9, PKD1L1, MMP21, and GDF1

Clinical Genetics, Volume 110, Issue 5, Page 574-583, November 2026.
Integrating trio‐based genomic sequencing with detailed clinical evaluation across seven French–Vietnamese heterotaxy cases alongside a review of 108 published patients reveals strong genotype–phenotype correlations. Variants in DNAH9, PKD1L1, MMP21, and GDF1 define a broad spectrum from isolated situs inversus to complex conotruncal heart defects and ...
Thi Bich Tuyen Ho, Alicia Coudert, Thi Thuy Hang Do, Thi Thanh Thuy Le, Marjolaine Gauthier, Charlotte Dubucs, Jeremie Mortreux, Pauline Monin, Nicolas Chatron, Françoise Devillard, Charles Coutton, Véronique Satre, Radu Harbuz, William Dufour, Louis Januel, Tristan Celse, Clara Paris, Auragen Consortium, Le Tuyet Mai Tran, Huu Tung Trinh, Pierre‐Simon Jouk, Ba Luu Truong, Thi Kim Nhi Nguyen, Julien Thevenon   +23 more
wiley   +1 more source

Differences in speech and language abilities between children with 22q11.2 deletion syndrome and children with phenotypic features of 22q11.2 deletion syndrome but without microdeletion

, 2016
Background: 22q11.2DS is the most common microdeletion syndrome in humans, usually associated with speech and language delay (SLD). Approximately 75% of children with 22q11.2 microdeletion have congenital heart malformations (CHM) which after infant open-
Stevanović, Milena, Rakonjac, Marijana, Cuturilo, Goran, Jelicic, Ljiljana, Subotic, Misko, Jovanovic, Ida, Drakulic, Danijela   +6 more
core   +1 more source