Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Amy Feldman Lewanda"'
Publikováno v:
Case Reports in Hematology, Vol 2024 (2024)
We describe a 10-month-old female with Diamond-Blackfan anemia (DBA) who presented with macrocytic anemia and reticulocytopenia. Whole exome sequencing revealed a de novo intronic variant in RPL27 (NM_000988.3:c.-2-1G > A p.?) previously reported in
Externí odkaz:
https://doaj.org/article/dd665e2880db408ca66474e9ecda766d
Autor:
Eyby Leon, Sean E. Hofherr, David Isum Ward, Jullianne Diaz, Bethany A. Buckley, Amy Feldman Lewanda, Margaret Faust Galegos
Publikováno v:
American Journal of Medical Genetics Part A. 176:551-559
Copy number variants of the X-chromosome are a common cause of X-linked intellectual disability in males. Duplication of the Xq28 band has been known for over a decade to be the cause of the Lubs X-linked Mental Retardation Syndrome (OMIM 300620) in
Autor:
Gustavo Nino, Jay Greenberg, Amy Feldman Lewanda, Mary Revenis, Marshall L. Summar, John S. Myseros, Craig Futterman, Kenneth N. Rosenbaum, Ashraf S Harahsheh, Andrew J. Matisoff
Publikováno v:
Pediatric Anesthesia. 26:356-362
Down syndrome is a common chromosome disorder affecting all body systems. This creates unique physiologic concerns that can affect safety during anesthesia and surgery. Little consensus exists, however, on the best way to evaluate children with Down
Publikováno v:
The Journal of pediatrics. 201
Objective To determine the frequency of dietary supplement use for children with Down syndrome, and to obtain additional descriptive data regarding the age of initial treatment, cost, perceived benefits, and disclosure of use to the pediatrician. Stu
Autor:
Eric A. Wulfsberg, Terri H. Beaty, Amy Feldman Lewanda, E. Vinageras-Guarneros, E.A. Smith, C. Garcia-Delgado, Diego F. Wyszynski, Iain McIntosh, Nancy E. Maestri
Publikováno v:
Human Heredity. 47:101-109
Nonsyndromic cleft lip with or without cleft palate is a common birth defect, affecting approximately 1 in 1,000 Caucasian newborns. Thirty-five multiplex families from the mid-Atlantic region of the United States and 22 families from central Mexico
Autor:
Iain McIntosh, Amy Feldman Lewanda, Nancy E. Maestri, Eric A. Wulfsberg, Diego F. Wyszynski, Constanza Garcia-Delgado, E. Anne Smith, Terri H. Beaty, Enrique Vinageras-Guarneros
Publikováno v:
Human Genetics. 99:22-26
It has been reported that BCL3 on chromosome 19q, or a nearby gene, may play a role in the etiology of non-syndromic cleft lip with or without cleft palate (NSCL/P) in some families. We tested 30 USA and 11 Mexican multiplex NSCL/P families for four
Autor:
Michael C. Brodsky, Tehmina Masud, S. Qasim Mehdi, Amy Feldman Lewanda, Jane C. Sowden, Eduardo Silva, Thomas M Glaser, Mark Borchert, Shagufta Khaliq, Aiysha Abid, Edward R. Oliver, Lev Prasov, Mehul T. Dattani, Daniel Kelberman
The vertebrate basic helix-loop-helix (bHLH) transcription factor ATOH7 (Math5) is specifically expressed in the embryonic neural retina and is required for the genesis of retinal ganglion cells (RGCs) and optic nerves. In Atoh7 mutant mice, the abse
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c4116c7c0b9abc8c5d0f5f5dfbe3c7b7
https://europepmc.org/articles/PMC3406761/
https://europepmc.org/articles/PMC3406761/
Publikováno v:
Genetic Diseases of the Eye
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f8260adf51ca775a067a009ef44cae3c
https://doi.org/10.1093/med/9780195326147.003.0012
https://doi.org/10.1093/med/9780195326147.003.0012