Results 51 to 60 of about 18,812 (235)

Y-Chromosomal Microdeletion in Idiopathic Azoospermic and Severe Oligozoospermic Indonesian Men

Acta Medica Indonesiana, 2017
Aim: to detect Y-chromosomal microdeletion in Indonesian men with azoospermia or severe oligozoospermia using multiplex PCR. Methods: we performed 2 multiplex PCR amplifications of the Azoospermia Factor (AZF) region in 71 men.
Ponco Birowo, Donny Eka Putra, Mewahyu Dewi, Nur Rasyid, Akmal Taher   +4 more
doaj   +2 more sources

Mosaic 22q11.2 microdeletion syndrome: diagnosis and clinical manifestations of two cases

Molecular Cytogenetics, 2008
Chromosome 22q11.2 microdeletion syndrome is due to microdeletion of 22q11.2 region of chromosome 22. It is a common microdeletion syndrome however mosaic cases are very rare and reported only few previous occasions.
Kabra Madhulika, Jain Manish, Halder Ashutosh, Gupta Neerja   +3 more
doaj   +1 more source

Recurrent 16p11.2 microdeletions in autism [PDF]

Human Molecular Genetics, 2007
Autism is a childhood neurodevelopmental disorder with a strong genetic component, yet the identification of autism susceptibility loci remains elusive. We investigated 180 autism probands and 372 control subjects by array comparative genomic hybridization (aCGH) using a 19K whole-genome tiling path bacterial artificial chromosome microarray to ...
Ravinesh A, Kumar, Samer, KaraMohamed, Jyotsna, Sudi, Donald F, Conrad, Camille, Brune, Judith A, Badner, T Conrad, Gilliam, Norma J, Nowak, Edwin H, Cook, William B, Dobyns, Susan L, Christian   +10 more
openaire   +2 more sources

Extending the ATP9A‐Related Phenotypic Spectrum: Indication of Schizophrenia Susceptibility

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT ATP9A, which belongs to the P4‐ATPase family of proteins, is involved in the efficient transport of vesicles from the Golgi apparatus to the plasma membrane, as well as the release of extracellular vesicles from human cells. In 2021, a loss‐of‐function variant of this gene was identified as being associated with a recessive neurodevelopmental ...
Camille Verebi, Céline Louveau, Bertrand Diebold, Natacha Gaitch, Arnaud Hubas, Martine Gautier Vallee, Jérôme Champ, Anais L'Haridon, Sophie Georgin Lavialle, Boris Chaumette, Thierry Bienvenu   +10 more
wiley   +1 more source

Reciprocal microdeletion and microduplication on human chromosomes [PDF]

, 2015
Nonallelic homologous recombination (NAHR) mediated by LCRs (low-copy repeats) produces chromosomal rearrangements in the human genome. Those rearrangements include microdeletion and microduplication. Those mutations cause a great number of syndromes and
Sluková, Lucie
core  

Investigational Management for a Positive NIPT Result - Case Report [PDF]

Modern Medicine
Non-invasive prenatal testing (NIPT), since its introduction in 2011, has revolutionized prenatal screening, becoming widely used globally and replacing traditional screening methods in developed countries.
Elena Evelina STOICA, Laurentiu Camil BOHILTEA, Delia-Maria Gradinaru-FOMETESCU, Monica Mihaela CIRSTOIU   +3 more
doaj   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Effect quantification and value prediction of factors in noninvasive detection for specific fetal copy number variants by semiconductor sequencing

Molecular Genetics & Genomic Medicine, 2019
Background The detection limit of noninvasive prenatal testing (NIPT) by next generation sequencing for any given fetal copy number variants (CNV) can be influenced by several factors.
Chunhua Zhang, Bo Liang, Longwei Qiao, Liming Xuan, Hong Li, Quanze He, Xiaojuan Wu, Jiafeng Lu, Bin Yu, Ting Wang   +9 more
doaj   +1 more source

Cardiac aspects of DiGeorge syndrome: a report of two cases with molecular analysis

Journal of Health Sciences, 2014
DiGeorge syndrome (DGS) which is also known as velocardiofacial syndrome is caused by a submicroscopic chromosome deletion of band 22q11. It is associated with a disturbed development of the pharyngeal arches.
Senka Mesihović Dinarević, Emina Vukas
doaj   +1 more source

Role of SoxE transcription factors in development and disease

Developmental Dynamics, EarlyView.
Abstract Sox8, Sox9, and Sox10 arose by multiple rounds of genome duplications from a single SoxE gene in ancestral vertebrates. In this review, we will briefly discuss the molecular structure and function of SoxE transcription factors and their evolutionary origin. We will then discuss their expression, function, and developmental disorders.
Merin Lawrence, Gerhard Schlosser
wiley   +1 more source