Zobrazeno 1 - 7
of 7
pro vyhledávání: '"A G, Kupchik"'
Autor:
Randi Wasserman, Melissa Wasserstein, G. Kupchik, Nicole Kelly, Amy Yang, Robert J. Desnick, Joseph J. Orsini, Monica Martin, Michele Caggana, Sean Bailey, Ian R. Holzman
Publikováno v:
Molecular Genetics and Metabolism. 120:S138
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4e59b25592a8dc63db215afe6cb83907
https://doi.org/10.1016/j.ymgme.2016.11.365
https://doi.org/10.1016/j.ymgme.2016.11.365
Publikováno v:
Genetic Testing. 5:153-155
All Prader-Willi syndrome (PWS) and 75% of Angelman syndrome (AS) patients have specific DNA methylation pattern alterations that can be used for diagnostic evaluation. The methylation testing identifies a significantly higher proportion of patients
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ccadd31d621a846927a27f8755183db
https://doi.org/10.1089/109065701753145655
https://doi.org/10.1089/109065701753145655
Autor:
G. Kupchik, Milen Velinov, Arvind Babu, Gustavo A. Charria-Ortiz, Shannon K. Barrett, M Macera
Publikováno v:
Annales de G�n�tique.
A 2 month old male infant was found to have mild growth retardation, prominent forehead, low set ears, low nasal bridge, rounded facies, cleft palate, webbed neck, shawl scrotum, and absent right kidney. The propositus, a product of a consanguineous
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f565aa3595268ef13b288f201bd0848
https://doi.org/10.1016/j.anngen.2004.08.001
https://doi.org/10.1016/j.anngen.2004.08.001
Publikováno v:
Annales de G�n�tique.
A three year-old boy was evaluated because of growth and developmental delay, hypotonia and dysmorphic features. G-banding analysis revealed a small interstitial deletion of the long arm of chromosome four described as 46,XY,del (4)(q21.1q21.3). This
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d1e15a2f95e95d1c99e85a8907bfa1b1
https://doi.org/10.1016/j.anngen.2004.07.008
https://doi.org/10.1016/j.anngen.2004.07.008
Autor:
G. Kupchik, Milen Velinov, Stuart Lanter, Hong Gu, Keame Yeboa, Sarita Dhuper, Dorothy Warburton, Edmund C. Jenkins, Taknida Tubo, Doreen Delprino
Publikováno v:
American journal of medical genetics. 107(4)
We present a female infant with mild dysmorphic features and congenital heart defect: hypoplastic left heart with aortic atresia and hypoplastic aortic arch, ventricular septal defect, and a nonrestrictive atrial communication. Chromosome analysis sh
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6df1c82992b11a2edcc4544bc9cf0dc2
https://pubmed.ncbi.nlm.nih.gov/11840491
https://pubmed.ncbi.nlm.nih.gov/11840491
Publikováno v:
JAMA. 291:2945
To the Editor: Dr Jacquemont and colleagues reported that male carriers of premutation alleles of the FMR1 gene are at risk of developing fragile X–associated tremor/ataxia syndrome (FXTAS). We are concerned that the authors did not discuss genetic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::eb9fc635cf0da1b89d01f304dca480ee
https://doi.org/10.1001/jama.291.24.2945-a
https://doi.org/10.1001/jama.291.24.2945-a
Publikováno v:
Laboratornoe delo. 10
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6100baeb14ae2910464a888ae6be619b
https://pubmed.ncbi.nlm.nih.gov/4193065
https://pubmed.ncbi.nlm.nih.gov/4193065