Zobrazeno 1 - 10 of 12 pro vyhledávání: '"R. Stephen Amato"'
1
Pegvaliase for the treatment of phenylketonuria: A pivotal, double-blind randomized discontinuation Phase 3 clinical trial
Autor: R. Stephen Amato, Zhonghua Gu, Mary Stuy, Nicola Longo, Prism investigators, John Posner, Jerry Vockley, Markus Merilainen, Barbara K. Burton, Joy Jiang, Haoling H. Weng, Cary O. Harding
Publikováno v: Molecular genetics and metabolism. 124(1)
Pegvaliase is a recombinant Anabaena variabilis phenylalanine ammonia lyase (PAL) enzyme under investigation for treatment of adult phenylketonuria (PKU). This manuscript describes results of a randomized discontinuation trial (RDT) designed to evalu
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8dd88350974df09bd40c2ffb3b63ec6
https://pubmed.ncbi.nlm.nih.gov/29628378
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2
Whole exome sequencing identifies de novo heterozygousCAV1mutations associated with a novel neonatal onset lipodystrophy syndrome
Autor: Martin Kircher, R. Stephen Amato, Anil K. Agarwal, Miguel Del Campo, Abhimanyu Garg
Publikováno v: American Journal of Medical Genetics Part A. 167:1796-1806
Despite remarkable progress in identifying causal genes for many types of genetic lipodystrophies in the last decade, the molecular basis of many extremely rare lipodystrophy patients with distinctive phenotypes remains unclear. We conducted whole ex
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::606aeb1cf891e8dc5f55583f75846595
https://doi.org/10.1002/ajmg.a.37115
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3
A de novo complex karyotype with two independent balanced translocations and a double inversion of chromosome 6 presenting with multiple congenital anomalies
Autor: Gaurang Munshi, Laura Morsberger, Mary Haddadin, Constance A. Griffin, Antonie D. Kline, Anita L. Hawkins, R. Stephen Amato, Ilse Chudoba, Maimon M. Cohen
Publikováno v: American Journal of Medical Genetics. :124-129
We report a 4-year-old female with a de novo complex karyotype with multiple chromosomal rearrangements and a distinctive phenotype. Her medical history is significant for having been a twin born at 35 weeks gestation, breech presentation, with feedi
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::35b1c1f70d288e4285eea3ec64c1c9ec
https://doi.org/10.1002/ajmg.a.30130
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4
Compound Heterozygous Polymerase Gamma Gene Mutation in a Patient With Alpers Disease
Autor: Javier F. Cardenas, R. Stephen Amato
Publikováno v: Seminars in Pediatric Neurology. 17:62-64
Alpers disease is a mitochondrial depletion syndrome characterized by psychomotor retardation, intractable epilepsy, and liver failure. Polymerase gamma (POLG) gene mutations are a known cause of the disease. We describe a case in which a 14-month-ol
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::885769011cd9145dfea99930f16bc96f
https://doi.org/10.1016/j.spen.2010.02.012
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5
Intragenic rearrangements inNRXN1in three families with autism spectrum disorder, developmental delay, and speech delay
Autor: Sau Wai Cheung, Barbara Wiśniowiecka-Kowalnik, Sarika U. Peters, Patricia I. Bader, Monika Nesteruk, Pawel Stankiewicz, Christa L. Haun, M. Lance Cooper, Andrew Walter Duda, Marsha F. Browning, Sarah Savage, R. Stephen Amato, Zhilian Xia
Publikováno v: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics.
NRXN1 is highly expressed in brain and has been shown recently to be associated with ASD, schizophrenia, cognitive and behavioral abnormalities, and alcohol and nicotine dependence. We present three families, in whom we identified intragenic rearrang
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::879d3deefdf0d8eec5caad551397b606
https://doi.org/10.1002/ajmg.b.31064
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6
Improving genetic health care: a Northern New England pilot project addressing the genetic evaluation of the child with developmental delays or intellectual disability
Autor: Thomas Brewster, Leah Burke, Mary Beth Dinulos, Patrick Miller, John B. Moeschler, Wendy E. Smith, Rosemarie Smith, R. Stephen Amato
Publikováno v: American journal of medical genetics. Part C, Seminars in medical genetics. (3)
In 2006, all clinical genetics practices in Northern New England (Vermont, New Hampshire, and Maine) formed a learning collaborative with the purpose of improving genetic health care and outcomes. This article describes the current status of this eff
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6b2cec92323b5183c80138f3bacf3af
https://pubmed.ncbi.nlm.nih.gov/19621460
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7
Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testing
Autor: Bruce R. Korf, Gerald F. Cox, Albert Adams, Jay Raisen, R. Stephen Amato, Bai-Lin Wu, Neal I. Lindeman, Mira Irons, Margaret A. Kenna, Va Lip, Orah S. Platt
Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics. 4(4)
Purpose: Hearing loss is a common congenital disorder that is frequently associated with mutations in the GJB2 gene encoding the connexin 26 protein (Cx26). We sought to evaluate the effectiveness of direct DNA sequencing for detection of Cx26 mutati
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e11200b93ecfe52697d8eaf50fc0583a
https://pubmed.ncbi.nlm.nih.gov/12172394
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9
The role of cyclic nucleotides in the regulation of mitotic activity in SSPE virus-infected human brain tissue
Autor: M. Pat Leuschen, R. Stephen Amato
Publikováno v: Experimental Cell Research. 114:79-84
The intracellular level of cGMP was independent of the rate of cell division in cells derived from virally infected brain tissue. The phosphodiesterase inhibitor R07-2956 (4-dimethoxybenzyl-2-imidazolidinone) increased the intracellular level of cGMP
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8b8ea16f75066a916c32d605250e701
https://doi.org/10.1016/0014-4827(78)90038-1
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10
Dysfunctional uterine bleeding associated with 45X/47XXX mosaicism and Von Willebrand's disease
Autor: R. Stephen Amato, Morteza K. Elyaderani, Aileen Heritage-Miller, Angel M. Vazquez, John S. Rogers
Publikováno v: Journal of adolescent health care : official publication of the Society for Adolescent Medicine. 7(6)
This report describes a patient with Turner's mosaicism (45X/47XXX) who presented with short stature and heavy menstrual bleeding. Pelvic ultrasound revealed the presence of a large right cystic ovary; the left ovary was not visualized. Coagulation e
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cec3a0ea9f8e3cadfc90786963ff93c7
https://pubmed.ncbi.nlm.nih.gov/3542918
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