Results 171 to 180 of about 453,665 (301)

Y chromosome microdeletion and cytogenetic findings in male infertility: A cross-sectional descriptive study

International Journal of Reproductive BioMedicine, 2021
Meenakshi Arumugam, Deyyanthody Prashanth Shetty, Jayarama Shanker Kadandale, Suchetha Nalilu Kumari   +3 more
doaj   +1 more source

A case with a de novo chromosome 8.9 Mb 11pter duplication and 6.4 Mb 11qter deletion derived from a father with a normal karyotype. [PDF]

Clin Dysmorphol
Pakhathirathien P, Vaseenon H, Thammachote W, Songpatanasilp C, Sinpitak P, Tocharoentanaphol C, Jinawath N, Wattanasirichaigoon D.   +7 more
europepmc   +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

Detection of Copy-Number Variations in CNS Tumours From Off-Target Reads of Hybrid-Capture Sequencing. [PDF]

Neuropathol Appl Neurobiol
Schnorrenberg J, Adrian YL, Schlathölter J, Ruckert C, Horvath J, Paulus W, Hasselblatt M, Thomas C.   +7 more
europepmc   +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

Partial Monosomy 21q Due to De Novo t(15;21)(q26.3;q22.11): A Case Report with Clinical and Molecular Findings. [PDF]

Appl Clin Genet
Nojehdeh ST, Fattahi T, Arish S, Mokabber H, Nobakht R, Davarnia S, Davarnia B.   +6 more
europepmc   +1 more source

Identification and characterization of a homozygous deletion found in ovarian ascites by representational difference analysis [PDF]

, 1999
Gabra, H, Morrison, H, Perry, P, Porteous, D J, Rabiasz, G J, Smyth, J F, Taylor, K J, Watson, J E   +7 more
core  

Remote Language Assessment in School‐Age Children With Phelan–McDermid Syndrome and Genotype–Phenotype Correlation

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT People with Phelan–McDermid syndrome (PMS) have reduced speech and language abilities, yet little research has profiled the communication abilities in this population. The purpose of this study was threefold: identifying the language and communication profiles of school‐aged children with PMS, identifying genetic contributions to language and ...
Sarah Quadri‐Valverde, Jessica Klusek, Linda D. Ward, Diana Ivankovic, Nancy Powers, Vijay Shankar, Rachel A. Lyman, Trudy F. C. Mackay, William Bridges, Katy Phelan, Curtis Rogers, Luigi Boccuto, Sara M. Sarasua   +12 more
wiley   +1 more source

Overexpression of SOX3 due to an X chromosome inversion leading to ovotesticular difference in sex development. [PDF]

Biol Sex Differ
Nascimento-Vidoti CG, Fabbri-Scallet H, Guaragna MS, de Wallau MB, de Souza VS, da Costa SS, Krepischi ACV, Mazzeu JF, Carvalho CMB, Maciel-Guerra AT, Guerra-Júnior G, Vieira TP.   +11 more
europepmc   +1 more source

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source