Results 321 to 330 of about 554,004 (364)

Single cell co-amplification of polymorphic markers for the indirect preimplantation genetic diagnosis of hemophilia A, X-linked adrenoleukodystrophy, X-linked hydrocephalus and incontinentia pigmenti loci on Xq28

Human Genetics, 2004
N. Gigarel, N. Frydman, P. Burlet, V. Kerbrat, J. Steffann, R. Frydman, A. Munnich, P. Ray   +7 more
semanticscholar   +1 more source

X-linked dominant inherited diseases with lethality in hemizygous males

Human Genetics, 2004
R. Wettke-Schäfer, G. Kantner
semanticscholar   +1 more source

A PCR-based non-radioactive X-chromosome inactivation assay for genetic counseling in X-linked primary immunodeficiencies.

Life Science, 1997
G. Wengler, O. Parolini, M. Fiorini, P. Mella, Hedy Smith, Alberto G. Ugazio, Luigi D. Notarangelo   +6 more
semanticscholar   +1 more source

MZ female twins discordant for X-linked diseases: a review.

Acta geneticae medicae et gemellologiae, 1994
G. Tiberio
semanticscholar   +1 more source

Genetic testing for X-linked Alport syndrome by direct sequencing of COL4A5 cDNA from hair root RNA samples.

American Journal of Kidney Diseases, 2007
B. Tazón-Vega, E. Ars, M. Burset, S. Santín, P. Ruíz, P. Fernández-Llama, J. Ballarín, R. Torra   +7 more
semanticscholar   +1 more source

Neuropathological review of 138 cases genetically tested for X-linked hydrocephalus: evidence for closely related clinical entities of unknown molecular bases

Acta Neuropathologica, 2013
H. Adle-Biassette, P. Saugier-Veber, C. Fallet-Bianco, A. Delezoide, F. Razavi, N. Drouot, A. Bazin, A. Beaufrère, B. Bessières, S. Blesson, M. Bucourt, D. Carles, L. Devisme, F. Dijoud, B. Fabre, C. Fernandez, D. Gaillard, M. Gonzalès, F. Jossic, M. Joubert, N. Laurent, B. Leroy, L. Loeuillet, P. Loget, P. Marcorelles, J. Martinovic, M. Perez, D. Satgé, M. Sinico, M. Tosi, J. Benichou, P. Gressens, T. Frebourg, A. Laquérriere   +33 more
semanticscholar   +1 more source

X-linked lymphoproliferative syndromes and related autosomal recessive disorders

Current Opinion in Allergy and Clinical Immunology, 2013
A. Veillette, Luis-Alberto Pérez-Quintero, S. Latour   +2 more
semanticscholar   +1 more source

Genetic X‐Linked Disease

2005
openaire   +1 more source

Preimplantation genetic diagnosis of X-linked adrenoleukodystrophy with gender determination using multiple displacement amplification

Fertility and Sterility, 2007
BELÉN Lledo, Rafael Bernabeu, Luigi Cioffi   +2 more
exaly  

The immunogenetics of immune dysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome

Journal of Medical Genetics, 2012
Eva d’Hennezel, Khalid Bin Dhuban, T. Torgerson, C. Piccirillo   +3 more
semanticscholar   +1 more source