Zobrazeno 1 - 10
of 12
pro vyhledávání: '"LuAnn Weik"'
Autor:
Linda M, Reis, Sarah, Seese, Mohit, Maheshwari, Donald, Basel, LuAnn, Weik, Julie, McCarrier, University Of Washington Center For Mendelian Genomics, Elena V, Semina
Publikováno v:
Genes; Volume 13; Issue 7; Pages: 1165
Septo-optic dysplasia (SOD) is a developmental phenotype characterized by midline neuroradiological anomalies, optic nerve hypoplasia, and pituitary anomalies, with a high degree of variability and additional systemic anomalies present in some cases.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::890560c6dfb9251173ba5bbc791c2ad8
https://pubmed.ncbi.nlm.nih.gov/35885948
https://pubmed.ncbi.nlm.nih.gov/35885948
Autor:
Jess F. Peterson, Brett Chirempes, Rachel B. Lorier, David P. Bick, John W. Grignon, Ulrike P. Kappes, Donald Basel, LuAnn Weik, Nykula Zemlicka
Publikováno v:
Journal of Pediatric Genetics. :023-028
We report a 19-year-old female patient with a history of short stature, primary ovarian insufficiency, sensorineural hearing loss, sacral teratoma, neurogenic bladder, and intellectual disability with underlying mosaicism for der(X)t(X;3)(q13.2;q25.3
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56b90f5d9d40e38520888ef21b8cc141
https://doi.org/10.1055/s-0037-1604448
https://doi.org/10.1055/s-0037-1604448
Publikováno v:
American Journal of Speech-Language Pathology. 8:23-32
Velocardiofacial syndrome (VCF) is a genetic condition involving palate abnormalities, cardiac anomalies, characteristic facies, and learning disabilities. This autosomal dominant malformation pattern is one of the most common syndromes associated wi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::91175ed6eb04cc102ab49eb87414c6e5
https://doi.org/10.1044/1058-0360.0801.23
https://doi.org/10.1044/1058-0360.0801.23
Autor:
Emma Nguyen, Daniel Breidenbach, Steve Nettles, Meagan Corliss, Stephanie Fox, Susan Hiraki, Lisa Ku, Whitney Neufeld-Kaiser, Bronson Riley, Jamie Taylor, LuAnn Weik
Publikováno v:
Journal of Genetic Counseling; Jun2009, Vol. 18 Issue 3, p205-216, 12p
Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia
Autor:
John A. Crolla, Ram Iyer, Arthur R. Brothman, John C K Barber, Stephen Sanders, Charlotte Boni, Erin B. Kaminsky, Laurie A. Demmer, Lisa Guy, Bonnie A. Salbert, Kim Uhas, Emily Aston, Shuwen Huang, David H. Ledbetter, Nancy J. Eisenhauer, Scott M. Myers, Troy J. Gliem, Todd Ackley, Denae M. Golden, Chantal F. Morel, LuAnn Weik, Erik C. Thorland, Christa Lese Martin, Diane L. Pickering, Melanie Care, Margaret P. Adam, Daniel Moreno-De-Luca, Ashadeep Chandrareddy, Jennifer G. Mulle, Stephen T. Warren, Swaroop Aradhya, Amy T. Pakula, Eva W.C. Chow, Urvashi Surti, Warren G. Sanger
Publikováno v:
The American Journal of Human Genetics. (5):618-630
Autism spectrum disorders (ASD) and schizophrenia are neurodevelopmental disorders for which recent evidence indicates an important etiologic role for rare copy number variants (CNVs) and suggests common genetic mechanisms. We performed cytogenomic a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f5815c7a4ba8ccaf89d8c5eccf37556
Autor:
Reis, Linda M., Seese, Sarah, Maheshwari, Mohit, Basel, Donald, Weik, LuAnn, McCarrier, Julie, Semina, Elena V.
Publikováno v:
Genes; Jul2022, Vol. 13 Issue 7, p1165-1165, 9p
Patient and Family Experiences and Opinions on Adding 22q11 Deletion Syndrome to the Newborn Screen.
Publikováno v:
Journal of Genetic Counseling; Oct2010, Vol. 19 Issue 5, p526-534, 9p
Autor:
Hampel H, Grubs RE, Walton CS, Nguyen E, Breidenbach DH, Nettles S, Callanan N, Corliss M, Fox S, Hiraki S, Ku L, Neufeld-Kaiser W, Riley B, Taylor J, Weik L, American Board of Genetic Counseling 2008 Practice Analysis Advisory Committee
Publikováno v:
Journal of Genetic Counseling; Jun2009, Vol. 18 Issue 3, p205-216, 12p
Autor:
Donna Cutler-Landsman
Educating Children with Velo-Cardio-Facial Syndrome, 22q11.2 Deletion Syndrome, and DiGeorge Syndrome, Third Edition, effectively blends the thoughtful research that has transpired within the past 25 years with practical and current educational strat
Publikováno v:
Clinical Genetics; May1988, Vol. 33 Issue 5, p399-399, 1p