Results 81 to 90 of about 140,678 (408)

Compound Heterozygous Variants in ZSWIM7 Gene Linked to Infertility and Its Role in Gonadal Development

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This study aims to elucidate the role of the ZSWIM7 gene in the etiology of infertility, focusing on its potential association with premature ovarian insufficiency and azoospermia. We investigated an 18‐year‐old female patient who presented with primary amenorrhea, hypoplasia of the uterus and ovaries, Tanner stage II breast and pubic hair ...
Denise M. Christofolini, Guilherme Pinn, Thainá Vilella, Maria I. Melaragno, Mariana Moysés‐Oliveira, Luciano Pompei, Rare Genomes Project Consortium, Bianca Bianco, Caio P. Barbosa   +8 more
wiley   +1 more source

Congenital malformation of fetus in a pregnancy following spontaneous ovulation in a case of premature ovarian failure

Journal of Human Reproductive Sciences, 2010
Premature ovarian failure (POF), that is, amenorrhea before 40 years of age can be attributed to a variety of etiologies. Approximately 1% of women before 30 years are diagnosed with POF.
Priya Selvaraj, Kamala Selvaraj, Megha Agrawal, Gunjan Singh   +3 more
doaj   +1 more source

Mechanism of T-Cell Lymphomagenesis: Transformation of Growth-Factor-Dependent T-Lymphoblastoma Cells to Growth-Factor-Independent T-Lymphoma Cells [PDF]

, 1984
In a previous paper we described the induction by x-irradiation or radiation-induced leukemia virus-in-oculation of two classes of lymphoid T-cell neoplasms: The first class, designated T-cell lymphoblastoma (TCLB), consists of growth-factor-dependent ...
Altman, Amnon, Bogart, Mark H., Haas, Martin, Jones, O. W., Rothenberg, Ellen   +4 more
core   +1 more source

Two New Cases Expand the Phenotypic Spectrum of TUBG1 Missense Variants

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The gamma‐tubulin ring complex (γ‐TuRC) plays a role in coordinating centrosome and spindle pole body formation during cell division. TUBG1 encodes a critical component of the γ‐TuRC. Pathogenic TUBG1 variants can cause a range of alterations in cortical gyral patterning, microcephaly, and other neurological manifestations.
Roser Urreizti, Jessica Vissicchio, Mohamed Idries, Monica Cozar, Raquel Rabionet, Tyhiesia Donald, Elizabeth J. Bhoj, Tomoki T. Nomakuchi, Shannon C. Shipley, Andrew E. Timms, Ghayda M. Mirzaa, Mercedes Serrano, Andrew K. Sobering   +12 more
wiley   +1 more source

Effect of Induced Polyploidy on Morphology, Antioxidant Activity, and Dissolved Sugars in Allium cepa L.

Horticulturae
The role of onion as the second most-consumed and cultivated vegetable around the world and its renowned qualities that lead it to be called the “queen of the kitchen” have positioned it as a vital source of nutritional and economic contributions around ...
Mujahid Ado Abubakar, Novitskaya Elena Gennadievna, Son Oksana Mikhailovna, Kim Ekaterina Mikhailovna   +3 more
doaj   +1 more source

Multiplex ligation-dependent probe amplification – a short overview

Romanian Journal of Laboratory Medicine, 2020
Multiplex Ligation-dependent Probe Amplification is a technique proposed for the detection of deletions or duplications that may lead to copy number variations in genomic DNA, mainly due to its higher resolution, and shorter overall diagnosis time, when ...
Moldovan Valeriu, Moldovan Elena
doaj   +1 more source

A comprehensive resource for induced pluripotent stem cells from patients with primary tauopathies [PDF]

, 2019
Primary tauopathies are characterized neuropathologically by inclusions containing abnormal forms of the microtubule-associated protein tau (MAPT) and clinically by diverse neuropsychiatric, cognitive, and motor impairments.
Cairns, Nigel J, et al,, Ghoshal, Nupur, Hsu, Simon, Karch, Celeste M, Marsh, Jacob A, Martinez, Rita, Norton, Joanne   +7 more
core   +1 more source

Non-immune fetal hydrops: etiology and outcome according to gestational age at diagnosis. [PDF]

, 2020
OBJECTIVE: Fetal hydrops is associated with increased perinatal morbidity and mortality. The etiology and outcome of fetal hydrops may differ according to the gestational age at diagnosis.
A. Bhide, A. Khalil, A. Kulkarni, B. Thilaganathan, E. Dempsey, F. G. Sileo, Hutchison AA, I. Branescu, Jauniaux E, Norton ME, S. Mansour, Santolaya J, T. Homfray   +12 more
core   +2 more sources

Whole-Genome Array CGH Evaluation for Replacing Prenatal Karyotyping in Hong Kong

PLoS ONE, 2014
Objective To evaluate the effectiveness of whole-genome array comparative genomic hybridization (aCGH) in prenatal diagnosis in Hong Kong. Methods Array CGH was performed on 220 samples recruited prospectively as the first-tier test study.
A. Kan, A. Kan, E. Lau, E. Lau, W. Tang, S-Y Chan, Simon C. K. Ding, Kelvin Y. K. Chan, Kelvin Y. K. Chan, Chin-peng Lee, Chin-peng Lee, P. Hui, P. Hui, B. Chung, B. H. Chung, Kwok-fai Leung, T. Ma, W. Leung, M. Tang, M. Tang   +19 more
semanticscholar   +1 more source

Worth the Effort: Lessons for Discovery and Care From an Unusual Case of Gorlin Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gorlin‐Goltz Syndrome (GGS) is a rare autosomal dominant genetic disorder encompassing a diverse range of clinical manifestations, including congenital anomalies and predisposition to cancer. Pathogenic variants in PTCH1 and SUFU account for up to 79% and 6% of cases, respectively. Currently, an estimated 15%–27% of individuals with a clinical
V. Taliercio, J. Zhao, S. E. Boyden, R. Mao, P. Bayrak‐Toydemir, A. Pflaum, J. Palumbos, A. Andrews, E. E. Baldwin, C. Welt, Mackenzie Fait, Undiagnosed Diseases Network, L. D. Botto, D. Viskochil   +13 more
wiley   +1 more source