Two unrelated patients with autosomal dominant omodysplasia and FRIZZLED2 mutations

Autor: Jules G. Leroy, Hannah Warren, Jaime L. Frias, Michael J. Friez, Neena L. Champaigne, Jürgen Spranger, Raymond J. Louie, Steven A. Skinner

Publikováno v: Clinical Case Reports

Autosomal dominant omodysplasia (OMOD2) is a rare skeletal dysplasia delineated and clinically differentiated from its autosomal recessive counterpart (OMOD1) by Maroteaux et al.1 OMOD2 is clinically characterized primarily by short upper extremities

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d31b6ff5baed082bacad02f331a2a83
http://europepmc.org/articles/PMC6230601

XYLT1 Mutations in Desbuquois Dysplasia Type 2

Autor: Beyhan Tüysüz, Céline Huber, Valérie Cormier-Daire, Christine Bole-Feysot, Catherine Bui, Jules G. Leroy, Geert Mortier, Yasemin Alanay, Arnold Munnich, Patrick Nitschke

Publikováno v: American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2014, 94 (3), pp.405-414. ⟨10.1016/j.ajhg.2014.01.020⟩
The American journal of human genetics

Desbuquois dysplasia (DBQD) is a severe condition characterized by short stature, joint laxity, and advanced carpal ossification. Based on the presence of additional hand anomalies, we have previously distinguished DBQD type 1 and identified CANT1 (c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4739c6f13b37ea4d62e2e7457f457cbb

New observation of sialuria prompts detection of liver tumor in previously reported patient

Autor: Jiarui Li, Louis Libbrecht, Tim Wood, J Decaestecker, Edwin Steenkiste, Monica J. Basehore, Jules G. Leroy, Laura Pollard, Michael J. Friez, Chris Verslype, Neena L. Champaigne, He-Ping Hu, Jennifer L. Goldstein, Marjan Huizing, Priya S. Kishnani, Alka Chaubey, Jo Van Dorpe, Roger E. Stevenson, Nansheng Chen

Publikováno v: Mol Genet Metab

Sialuria, a rare inborn error of metabolism, was diagnosed in a healthy 12-year-old boy through whole exome sequencing. The patient had experienced mild delays of speech and motor development, as well as persistent hepatomegaly. Identification of the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7701e3b21b02c9fb8a7c8232a2f49512
https://pubmed.ncbi.nlm.nih.gov/27142465

Putative monosomy 21 in two patients: clinical findings and investigation using fluorescence in situ hybridization

Autor: Joan du Toit, Denis Viljoen, Jules G. Leroy, Frank Speleman, Nadine Van Roy, Ronald D. Smart

Publikováno v: Clinical Genetics. 42:105-109

Complete monosomy 21 is claimed to be a rare chromosomal disorder in which the cytogenetic investigation is bedevilled by technical difficulties. We describe the disparate clinical features in two patients in whom an initial diagnosis of monosomy 21

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c681af06a1c81d30c4df89420ed96f6
https://doi.org/10.1111/j.1399-0004.1992.tb03219.x

Congenital Disorders of N-Glycosylation Including Diseases Associated With O- as Well as N-Glycosylation Defects

Autor: Jules G. Leroy

Publikováno v: Pediatric Research. 60:643-656

The congenital disorders of N-glycosylation (CDG), a steadily increasing group of multi-systemic disorders, have severe clinical implications in infancy and early childhood. The various inborn errors responsible adversely affect N-glycosylation of ly

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::937c1f536a9364b0dc6f515cc65dddd9
https://doi.org/10.1203/01.pdr.0000246802.57692.ea