Am J Hum Genet

Autor: Robert Smigiel, Géraldine Joly-Helas, Linyan Meng, Gregory M. Cooper, Nolwenn Jean-Marçais, Christel Thauvin-Robinet, Bruno Kieffer, Christopher T. Gordon, Laurence Faivre, Rhonda E. Schnur, Sarah L. Dugan, Seema R. Lalani, Heather C Mefford, Susan M. Hiatt, Marlène Rio, Seiamak Bahram, Jamel Chelly, Caroline Schluth-Bolard, Tatiana Tvrdik, Alison M. Muir, Eva Erdmann, Aline Kolmer, Aurore Garde, Angélique Pichot, Raphael Carapito, Mary K. Kukolich, Andrea M. Lewis, David Hunt, Clémantine Dimartino, Aurore Morlon, Anne Molitor, Ingrid M. Wentzensen, Fabien Dutreux, Nicodème Paul, Carlos A. Bacino, Nina B. Gold, Frédéric Tran Mau-Them, Olaf Bodamer, Deciphering Developmental Disorders Study, Zijie Sun, Pinar Bayrak-Toydemir, Heather P. Crawford, Victoria Harrison, Jocelyn Céraline, Jeanne Amiel, Mira Kharbanda, Christina Hung, A. Hanauer, Anne-Marie Guerrot, David Viskochil, Bertrand Isidor, Maya Chopra, Kirsty McWalter, Lydie Naegely, Meredith Phillips, Xia Wang, Rafał Płoski, Noel Mensah-Bonsu, Ekaterina L. Ivanova, Magalie S. Leduc

Publikováno v: American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2019, 104, pp.319-330. ⟨10.1016/j.ajhg.2018.12.007⟩

ZMIZ1 is a coactivator of several transcription factors, including p53, the androgen receptor, and NOTCH1. Here, we report 19 subjects with intellectual disability and developmental delay carrying variants in ZMIZ1. The associated features include gr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::25ce89018be6a7579f0f2e0f77c8b7d7

Index of suspicion. Case 1: abdominal pain, distension, hard stool, and diarrhea in an 11-year-old boy. Case 2: recurrent otitis media in a 4-year-old boy. Case 3: gynecomastia and galactorrhea in a 15-year-old boy

Autor: Sona, Young, Monica, Joseph-Griffin, Noel, Mensah-Bonsu, Joseph R, Hageman, David, Schwartz, Cecilia, Mikita, Paola, Luca, Stacey, Urbach

Publikováno v: Pediatrics in review. 34(7)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::2b740c726ccb7df9c32542cc9f4dfe17
https://pubmed.ncbi.nlm.nih.gov/23818086

Diffuse Cutaneous Mastocytosis, Bullous Variant, Presenting in a Six-Month-Old Infant

Autor: Matthew Plassmeyer, Jasbir Johal, Raavi Gupta, Mark Ryherd, Viet Nguyen, Denise Loizou, Oral Alpan, Benjamin Enav, Renuka P. Limgala, Lauren Austin, Barbara Molloy, Laura E. Noonan, Pamela Hider, Noel Mensah-Bonsu, Lauren Kinneman, Robert A. Silverman, Margaret R. Brown

Publikováno v: The Journal of Allergy and Clinical Immunology: In Practice. 2:341-342

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e5833203e78bc9300505d8a190bdcf98
https://doi.org/10.1016/j.jaip.2014.02.016