Results 81 to 90 of about 48,766 (300)

A Rare Case of Secondary Amenorrhoea Due to a Congenital Anomaly in a a Young Female Patient: A Case Report

Sri Lanka Journal of Medicine
Unilateral ovarian agenesis affects approximately 1 in 11,240 women while bilateral agenesis is even rarer. A 22-year-old Sri Lankan single woman and also a university undergraduate presented with a five-year absence of menstruation.
N. P. Hettiarachchi, N. Ganashiam, R. M. D. B. Ranatunga, W. Abeykoon   +3 more
doaj   +1 more source

From Multiple Congenital Anomalies to Pituitary Gland Malformation: Wide Spectrum of Clinical Features in a Family With FOXA2 Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT FOXA2 (hepatocyte nuclear factor‐3β, HNF‐3β) encodes a transcriptional activator involved in early embryogenesis, particularly in the patterning and differentiation of midline structures such as the neural tube, foregut, and pituitary gland. Its role in human pathogenesis was first suspected when patients with deletion of chromosome 20p11.2 ...
Christopher Connolly, Hemant A. Parmar, Lauren Hipp, Tomoyasu Higashimoto   +3 more
wiley   +1 more source

Reproductive Wastage in Recurrent Partial Hydatidiform Mole: A Clinical Dilemma. [PDF]

, 2013
Recurrent partial Hydatidiform mole is an extremely rare clinical entity which represent a part of the gestational trophoblatic neoplasia spectrum. Since the first case was reported by Honore.
Ashmita, D, Shakuntala, PN, Shubha, RR, Usha, R   +3 more
core  

Multicolor chromosome bar codes [PDF]

, 2006
Chromosome bar codes are multicolor banding patterns produced by fluorescence in situ hybridization (FISH) with differentially labeled and pooled sub-regional DNA probes.
Müller, Stefan, Wienberg, Johannes
core   +1 more source

Genetic Abnormalities and Clinical Management of Fetal Genitourinary System Anomalies in Eastern China

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT To investigate the correlation between genetic abnormalities and fetal genitourinary (GU) anomalies in Eastern China and to provide assistance for the clinical management of fetuses with different types of GU anomalies. Five hundred forty‐five fetuses with GU anomalies were enrolled, undergoing karyotyping, copy number variation sequencing ...
Jie Liang, Jiebin Wu, Lin Zhang, Yunmeng Qi, Yi Wang, Xu Cao, Jingfang Zhai   +6 more
wiley   +1 more source

Genetic profiling in acute myeloid leukemia [PDF]

, 2012
No abstract ...
Brewin, John, Chevassut, Timothy, Horne, Gillian   +2 more
core   +1 more source

First Korean Case of 5q35.2q35.3 Microduplication With Reversed Sotos Syndrome Phenotype and Growth Hormone Deficiency: Expanding the Endocrine Spectrum

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Sotos syndrome is an overgrowth disorder caused by nuclear receptor binding SET domain protein 1 (NSD1) haploinsufficiency, whereas reciprocal 5q35.2q35.3 microduplication produces a reversed phenotype with growth retardation, microcephaly, delayed bone age, and neurodevelopmental delay.
Sejin Kim, Jung Sook Ha, Jun Chul Byun
wiley   +1 more source

Application of chromosome microarray analysis and karyotyping in fetal cardiac abnormalities

Frontiers in Genetics
ObjectiveChromosome microarray analysis (CMA) and karyotyping are two important genetic testing techniques used in prenatal diagnosis. This study aims to evaluate the value of chromosome microarray analysis and karyotyping in the diagnosis of fetal ...
Yun Guo, Xiaoqin Xin, Linju Zhou, Jungao Huang   +3 more
doaj   +1 more source

Nuclear DNA contents, rDNAs, and karyotype evolution in subgenus Vicia: III. The heterogeneous section Hypechusa. [PDF]

, 2006
: Nuclear DNA contents, automated karyotype analyses, and sequences of internal transcribed spacers from ribosomal genes have been determined in the species belonging to section Hypechusa of the sub-genus Vicia.
AMBROSIO M, CAPUTO, PAOLO, CREMONINI R., FREDIANI M, RAVALLI C, VENORA G   +5 more
core  

Genome Sequence of the Chestnut Blight Fungus Cryphonectria parasitica EP155: A Fundamental Resource for an Archetypical Invasive Plant Pathogen. [PDF]

, 2020
Cryphonectria parasitica is the causal agent of chestnut blight, a fungal disease that almost entirely eliminated mature American chestnut from North America over a 50-year period. Here, we formally report the genome of C. parasitica EP155 using a Sanger
Aerts, Andrea, Barry, Kerrie, Churchill, Alice CL, Crouch, Jo Anne, Dawe, Angus, Grigoriev, Igor V, Grimwood, Jane, Hillman, Bradley I, Milgroom, Michael G, Nuss, Donald L, Pangilinan, Jasmyn, Salamov, Asaf, Schmutz, Jeremy, Smith, Myron, Yadav, Jagjit S   +14 more
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