Results 41 to 50 of about 18,812 (235)

Interstitial microdeletion of the 1p34.3p34.2 region [PDF]

Molecular Genetics & Genomic Medicine, 2018
AbstractBackgroundInterstitial microdeletions of chromosome 1p34.3p34.2 are rare, but are continuing to be identified by the use of chromosome microarray. There have been fewer than 10 individuals identified who have deletions of the 1p34.3p34.2 region; all of these previously described individuals have deletions of the AGO1, AGO3, GRIK3, SLC2A1, or ...
Joseph E. Jacher, Jeffrey W. Innis
openaire   +3 more sources

Clinical Features in Patients with Xq23 Microdeletion: A Case Report and Literature Review

JCRPE, 2022
Xq22.3-q23 microdeletion is a rare genomic disorder. The purpose of this study was to emphasize the correlation between clinical phenotype and genotype of proximal deletion on chromosome Xq22.3-q23. A 5 years old boy had a 671 KB microdeletion on Xq23 by
Lu Qin, Fei-Zhou Zhang, Jian-Hai Lv, Lan-Fang Tang   +3 more
doaj   +1 more source

Adult expression of a 3q13.31 microdeletion [PDF]

Molecular Cytogenetics, 2014
The emerging 3q13.31 microdeletion syndrome appears to encompass diverse neurodevelopmental conditions. However, the 3q13.31 deletion is rare and few adult cases have yet been reported. We examined a cohort with schizophrenia (n = 459) and adult control subjects (n = 26,826) using high-resolution microarray technology for deletions and duplications at ...
Lowther, Chelsea, Costain, Gregory, Melvin, Rebecca, Stavropoulos, Dimitri J, Lionel, Anath C, Marshall, Christian R, Scherer, Stephen W, Bassett, Anne S   +7 more
openaire   +3 more sources

Building families—Implementing balanced sexual and reproductive health

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract One of the main initiatives of the World Health Organization (WHO) is the promotion of Sexual and Reproductive Health (SRH). Sexuality, infertility, and contraception are three interconnected pillars of SRH, each essential for achieving global equity in family planning and family building.
Peter Y. Liu, Edgar Mocanu, Linda Giudice, Marcos Horton, Meletios P. Nigdelis, Antti Perheentupa, Andrea Sansone, Giovanni Corona, Luca Gianaroli, Dimitrios G. Goulis   +9 more
wiley   +2 more sources

Molecular findings of study subjects with 20q13.33 microdeletion.

, 2013
Molecular findings of study subjects with 20q13.33 microdeletion.
Devika Ganesamoorthy (362172), Jill A. Rosenfeld (362176), Anne Spencer (362171), Ryan N. Traylor (362167), Michael Caplan (191984), Matthew Hunter (362174), Robert Wildin (362170), Beth S. Torchia (362178), Lisa G. Shaffer (362179), Trent Burgess (362169), David J. Amor (362173), Aaron Theisen (362177), Blake C. Ballif (362180), Damien L. Bruno (362168), Howard R. Slater (362181)   +14 more
core   +1 more source

Prenatal diagnosis and molecular cytogenetic characterization of a de novo 4.858-Mb microdeletion in 15q14 associated with ACTC1 and MEIS2 haploinsufficiency and tetralogy of Fallot

Taiwanese Journal of Obstetrics & Gynecology, 2016
Objective: To present prenatal diagnosis and molecular cytogenetic characterization of a de novo 15q14 microdeletion associated with tetralogy of Fallot (TOF). Materials and methods: This was the first pregnancy of a 31-year-old primigravid woman.
Chih-Ping Chen, Chen-Yu Chen, Schu-Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Li-Feng Chen, Chien-Wen Yang, Wayseen Wang   +8 more
doaj   +1 more source

Case report: Novel phenotype in central 22q11.2 deletion syndrome

Clinical Case Reports, 2020
Deletions within 22q11.2 are one of the most common microdeletions studied. We report a case of central 22q11.2 deletion with abnormal dentition, a feature not previously described in this condition.
Patrick Dideum, Luis Rohena, Janet Berg, Candace Percival   +3 more
doaj   +1 more source

Chromosome 15q24 microdeletion syndrome [PDF]

Orphanet Journal of Rare Diseases, 2012
Chromosome 15q24 microdeletion syndrome is a recently described rare microdeletion syndrome that has been reported in 19 individuals. It is characterized by growth retardation, intellectual disability, and distinct facial features including long face with high anterior hairline, hypertelorism, epicanthal folds, downslanting palpebral fissures, sparse ...
Magoulas Pilar L, El-Hattab Ayman W
openaire   +3 more sources

WFS1 Deficiency Impairs PIAS4‐Associated SUMOylation and Increases Ubiquitin‐Mediated Spermatogenesis‐Related Protein Degradation Leading to Testicular Male Infertility

Advanced Science, EarlyView.
The findings establish a critical role for WFS1 in human male fertility. Mechanistically, WFS1 interacts with PIAS4 to promote the SUMOylation of key spermatogenesis‐associated proteins, which in turn competitively inhibits their K48‐linked ubiquitin‐mediated degradation during spermatogenesis.
Yunchuan Tian, Guicheng Zhao, Xiang Wang, Xinyao Tang, Gan Shen, Tiechao Ruan, Chuan Jiang, Shikun Zhao, Jincheng Zhang, Xinyue Cui, Liangchai Zhuo, Jun Ma, Yihong Yang, Tingting Lin, Ying Shen   +14 more
wiley   +1 more source

Systematic Cardiac Phenotyping of Patients With Copy Number Variants in the 15q11.2 Breakpoint 1 to Breakpoint 2 Region: A Retrospective Cohort Study From Nine Pediatric Cardiac Centers

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Microdeletions impacting 15q11.2 breakpoint (BP) 1 to BP2, adjacent to the Prader–Willi critical region, have previously described neuropsychiatric associations, with potential low penetrance presentations of congenital heart disease (CHD) also identified.
Morgan B. Wright, Maria B. Padua, Lindsey R. Helvaty, Kim L. McBride, Gabrielle Geddes, Vidu Garg, Seema R. Lalani, Stephanie Burns Wechsler, Jennelle C. Hodge, Benjamin J. Landis, Stephanie M. Ware   +10 more
wiley   +1 more source