Results 101 to 110 of about 18,812 (235)
, 2021 In this study, we aimed to elucidate the relationship between AZF deletion type and clinical information of azoospermic patients with AZF microdeletion in the Turkish population.
Kizilay, Fuat +9 more
core +1 more source
Perceived Impact of a Dedicated Clinic for Adults With 22q11.2 Deletion Syndrome
Journal of Intellectual Disability Research, EarlyView.ABSTRACT Background 22q11.2 deletion syndrome (22q11.2DS) is an under‐recognized multi‐system genetic condition. There are limited data available on the delivery of care for adults with 22q11.2DS or the experience of patients and caregivers. Methods At a dedicated multidisciplinary clinic for adults with 22q11.2DS, we distributed anonymous online ...
Joanne C. Y. Loo +8 more
wiley +1 more source
Journal of Human Reproductive Sciences, 2018 The aim of this study was to establish the Y chromosome microdeletion and partial AZFc microdeletion/duplication frequency firstly in East Hungarian population and to gain information about the molecular mechanism of the heterogeneous phenotype identified in males bearing partial AZFc deletions and duplications.Exactly determined sequences of ...
Attila Mokánszki +3 more
openaire +3 more sources
Cyclin‐dependent kinase 13 is indispensable for normal mouse heart development
Journal of Anatomy, Volume 246, Issue 4, Page 616-630, April 2025.Congenital heart disease (CHD) is the most common defect in live births. The role of cyclin‐dependent kinase (CDK13) in cardiogenesis and CHD was studied using a transgenic mouse model (Cdk13tm1b) carrying deletion of exons 3 and 4, causing loss of function.
Qazi Waheed‐Ullah +8 more
wiley +1 more source
Subtelomeric microdeletion in chromosome 20p13 associated with short stature
Key Clinical Message Among the total 10 reported cases with 20p13 microdeletion, including our patient, it is notable that 50% of patients presented a height below the 3rd percentile.
J. Liu +3 more
core +1 more source
Ideogram for chromosome 22 from a patient with a fetal microdeletion in the DiGeorge region.
, 2017 Ideogram for chromosome 22 from a patient with a fetal microdeletion in the DiGeorge region.
Corey Braastad (3804463) +18 more
core +1 more source
Microdeletion syndrome 16p11.2-p12.2: clinical and molecular characterization.
, 2009 The pericentromeric region on 16p appears to be susceptible to chromosomal rearrangements and several patients with rearrangements in this region have been described.
Hempel, M;Rivera Brugués, N;Wagenstaller, J;Lederer, G;Weitensteiner, A;Seidel, H;Meitinger, T;Strom, TM
core +2 more sources
Clinical Case Reports, 2019 Although there are numerous reports of heterozygous 15q13.3 microdeletion, homozygous 15q13.3 microdeletion is rare. We report a new patient with homozygous microdeletion of 15q13.2q13.3 and review the previous literature reports.
Julie Simon +4 more
doaj +1 more source
Prenatal Microarray Incidentally Diagnoses a Novel Inherited NF1 Intragenic Duplication
Molecular Genetics &Genomic Medicine, Volume 14, Issue 11, November 2026.Incidental molecular diagnosis of Neurofibromatosis Type 1 when prenatal chromosome microarray detected a duplication encompassing exons 2–36 of the NF1 gene. Pathogenicity was confirmed by RNA analysis. This case identifies a novel pathogenic NF1 duplication and highlights the importance of clinical genetics referral, pre‐test counseling, and informed
Rhiannon Sandow, Gunjan Garg
wiley +1 more source
Congenital heart disease presentations in the 15q11.2 microdeletion syndrome [PDF]
Congenital heart disease (CHD) is the most common type of birth defect and results from anomalies in the cardiogenesis process. There are multiple genetic mechanisms contributing to CHD, including copy number variants (CNVs). One such CNV is the 15q11.2 (
Kathryn E. Hentges +7 more
core +1 more source