Results 201 to 210 of about 282,756 (243)

Gonadal mosaicism and paradoxical phenotype in NEXMIF encephalopathy: a case report of two siblings

Journal Genetika
Naik Adarsha, Haseena Sait
semanticscholar   +1 more source

Germline mosaicism is a pitfall in PGD for X‐linked disorders. Single sperm typing detects very low frequency paternal gonadal mosaicism in a case of recurrent chondrodysplasia punctata misattributed to a maternal origin

Prenatal Diagnosis, 2017
V. Viart, M. Willems, A. Ishmukhametova, F. Dufernez, T. Anahory, S. Hamamah, S. Schmitt, M. Claustres, A. Girardet   +8 more
semanticscholar   +1 more source

“Pure” Gonadal Dysgenesis with XO/XX Mosaicism

The Journal of Clinical Endocrinology & Metabolism, 1964
A R, SOHVAL, O J, MILLER, A C, CHRISTAKOS, W A, EPSTEIN   +3 more
openaire   +2 more sources

Possible gonadal mosaicism in a family with hemoglobin Köln.

The Johns Hopkins medical journal, 1980
A brother and sister were the first members of a family to possess hemoglobin Köln (alpha 2 beta 2(98) Val leads to Met). Studies of these siblings and their parents strongly indicated that the anomaly had arisen by spontaneous mutation. Gonadal mosaicism of one of the parents offers the best explanation for the appearance of a spontaneous mutation in ...
T B, Bradley, R C, Wohl, L D, Petz, H A, Perkins, R D, Reynolds   +4 more
openaire   +1 more source

Gonadal Mosaicism

2011
openaire   +2 more sources

Paternal gonadal mosaicism as cause of a puzzling inheritance pattern of activated PI3-kinase delta syndrome.

Annals of Allergy, Asthma & Immunology, 2017
G. Segundo, O. Takano, Lillian S. Moraes, M. I. V. Nadaf, S. J. Fernandes, H. Ochs, T. Torgerson   +6 more
semanticscholar   +1 more source

Gonadal mosaicism for ACTA1 gene masquerading as autosomal recessive nemaline myopathy

American Journal of Medical Genetics. Part A, 2016
M. Z. Seidahmed, M. Salih, O. Abdelbasit, A. Alassiri, K. Hussein, A. Miqdad, A. Samadi, Abdallah Al Rasheed, I. Alorainy, R. Shaheen, F. Alkuraya   +10 more
semanticscholar   +1 more source

Detection of gonadal mosaicism in Hartsfield syndrome by next generation sequencing

American Journal of Medical Genetics. Part A, 2016
Y. Shi, Radhika Dhamija, C. Wren, Xiangling Wang, D. Babovic‐Vuksanovic, E. Spector   +5 more
semanticscholar   +1 more source

Gonadal dysgenesis and chromosome mosaicism

Journal of Pediatric Surgery, 1972
openaire   +1 more source

Rhabdoid tumor predisposition syndrome caused by SMARCB1 constitutional deletion: prenatal detection of new case of recurrence in siblings due to gonadal mosaicism

Familial Cancer, 2015
L. Gigante, I. Paganini, M. Frontali, Serena Ciabattoni, F. Sangiuolo, L. Papi   +5 more
semanticscholar   +1 more source