Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Aditi I Dagli"'
Autor:
Philip J. Lee, Christina Rodriguez, Kaustav Bhattacharya, Aditi I Dagli, Linda Steinkrauss, David A. Weinstein, Charles A. Stanley, Catherine E. Correia
Publikováno v:
Journal of Inherited Metabolic Disease. 33:151-157
Patients with type Ia glycogen storage disease (GSD) have been surviving well into adulthood since continuous glucose therapy was introduced in the 1970s, and there have been many documented successful pregnancies in women with this condition. Histor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28214768f7841d412cb0d32e27af591e
https://doi.org/10.1007/s10545-010-9054-1
https://doi.org/10.1007/s10545-010-9054-1
Autor:
Carlos A. Bacino, Sung Hae Lee Kang, Oleg A. Shchelochkov, Roberto T. Zori, Fernando Scaglia, Ashley M. Holder, Daryl A. Scott, Amy M. Breman, Margaret J. Wat, Aditi I Dagli, Sau Wai Cheung
Publikováno v:
American Journal of Medical Genetics Part A. :1661-1677
Recurrent interstitial deletion of a region of 8p23.1 flanked by the low copy repeats 8p-OR-REPD and 8p-OR-REPP is associated with a spectrum of anomalies that can include congenital heart malformations and congenital diaphragmatic hernia (CDH). Hapl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47778bb6d779da12cb45b62622504edb
https://doi.org/10.1002/ajmg.a.32896
https://doi.org/10.1002/ajmg.a.32896
Autor:
Roberto T. Zori, Helen McCune, T. Ivsic, Aditi I Dagli, Melissa K. Maisenbacher, David A. Weinstein
Publikováno v:
Journal of Inherited Metabolic Disease. 32:103-106
Glycogen storage disease type III (GSD III) is caused by a deficiency in debranching enzyme, which leads to an accumulation of abnormal glycogen called limit dextrin in affected tissues. Muscle and liver involvement is present in GSD type IIIa, while
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd10e29226a75c8e1caaf20aeef5595f
https://doi.org/10.1007/s10545-009-1088-x
https://doi.org/10.1007/s10545-009-1088-x
Publikováno v:
NeoReviews. 9:e291-e298
Early detection and management of inborn errors of metabolism (IEMs) can improve the affected infant's prognosis. Initial screening tests can provide a general overview of the infant's metabolic status and suggest potential IEMs. Among the clinical f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::dc74121cc43af44f831ea5a253c92410
https://doi.org/10.1542/neo.9-7-e291
https://doi.org/10.1542/neo.9-7-e291
Autor:
Deeksha Bali, Wendy K. Chung, Priya S. Kishnani, David A. Weinstein, Joseph I. Wolfsdorf, Pamela Arn, Michael S. Watson, David C. Dale, Stephanie Austin, Aditi I Dagli, Stephanie Burns Wechsler, Dwight D. Koeberl, Jose E. Abdenur, Michael J. Somers, Anne Boney
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 16(11)
Disclaimer: This guideline is designed primarily as an educational resource for clinicians to help them provide quality medical services. Adherence to this guideline is completely voluntary and does not necessarily ensure a successful medical outcome
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75244c24cf9a9fa724f151a7bbb6fdfb
https://pubmed.ncbi.nlm.nih.gov/25356975
https://pubmed.ncbi.nlm.nih.gov/25356975
Autor:
Jennifer Mueller, Heather J. Stalker, Roberto T. Zori, Nazneen Rahman, Aditi I Dagli, Charles A. Williams
Publikováno v:
Clinical dysmorphology. 20(2)
R.C. Philips Unit, Division of Genetics and Metabolism, Department of Pediatrics, University of Florida, Gainesville, USA and Section of Cancer Genetics, Brookes Lawley Building, Institute of Cancer Research, Sutton, Surrey, UK Correspondence to Dr C
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c270edb8b989557ed5958f9a90d1ae7a
https://pubmed.ncbi.nlm.nih.gov/21383553
https://pubmed.ncbi.nlm.nih.gov/21383553
The Angelman syndrome is caused by disruption of the UBE3A gene and is clinically delineated by the combination of severe mental disability, seizures, absent speech, hypermotoric and ataxic movements, and certain remarkable behaviors. Those with the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc96e31d24321fb2665dd98a0ac672e6
https://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&origin=inward&scp=84860197780
https://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&origin=inward&scp=84860197780
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 12(7)
Angelman syndrome is characterized by severe developmental delay, speech impairment, gait ataxia and/or tremulousness of the limbs, and a unique behavioral phenotype that includes happy demeanor and excessive laughter. Microcephaly and seizures are c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::afd4ec02a8b4969a2cf5638c2bcfc796
https://pubmed.ncbi.nlm.nih.gov/20445456
https://pubmed.ncbi.nlm.nih.gov/20445456
Autor:
Jill A. Rosenfeld, Sarah H. Elsea, Eli Hatchwell, William P Allen, Sureni V. Mullegama, Stephen R. Williams, Aditi I Dagli, Charles A. Williams
Publikováno v:
European journal of human genetics : EJHG. 18(4)
Microdeletion of chromosome 2q23.1 results in a novel syndrome previously reported in five individuals. Many of the del(2)(q23.1) cases were thought to have other syndromes such as Angelman, Prader-Willi, or Smith-Magenis because of certain overlappi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d6f1cd1073126a90d8e343ad699377b
https://pubmed.ncbi.nlm.nih.gov/19904302
https://pubmed.ncbi.nlm.nih.gov/19904302