Urv T - Search Results

1

Incidence and temporal patterns of adaptive behavior change in adults with mental retardation.

Zigman WB, Schupf N, Urv T, Zigman A, Silverman W. Zigman WB, et al. Among authors: urv t. Am J Ment Retard. 2002 May;107(3):161-74. doi: 10.1352/0895-8017(2002)107<0161:IATPOA>2.0.CO;2. Am J Ment Retard. 2002. PMID: 11966329

2

A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network.

Spillmann RC, Tan QK, Reuter C, Schoch K; Undiagnosed Diseases Network; Kohler J, Bonner D, Zastrow D, Alkelai A, Baugh E, Cope H, Marwaha S, Wheeler MT, Bernstein JA, Shashi V; Undiagnosed Diseases Network. Spillmann RC, et al. Genet Med. 2023 Apr;25(4):100353. doi: 10.1016/j.gim.2022.12.001. Epub 2022 Dec 5. Genet Med. 2023. PMID: 36481303 Free PMC article.

3

H4C5 missense variant leads to a neurodevelopmental phenotype overlapping with Angelman syndrome.

Borja N, Borjas-Mendoza P, Bivona S, Peart L, Gonzalez J, Johnson BK, Guo S, Yusupov R; Undiagnosed Diseases Network; Bademci G, Tekin M. Borja N, et al. Am J Med Genet A. 2023 Jul;191(7):1911-1916. doi: 10.1002/ajmg.a.63193. Epub 2023 Mar 29. Am J Med Genet A. 2023. PMID: 36987712 Free PMC article.

4

SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia.

Srivastava S, Shaked HM, Gable K, Gupta SD, Pan X, Somashekarappa N, Han G, Mohassel P, Gotkine M, Doney E, Goldenberg P, Tan QKG, Gong Y, Kleinstiver B, Wishart B, Cope H, Pires CB, Stutzman H, Spillmann RC; Undiagnosed Disease Network; Sadjadi R, Elpeleg O, Lee CH, Bellen HJ, Edvardson S, Eichler F, Dunn TM. Srivastava S, et al. Brain. 2023 Apr 19;146(4):1420-1435. doi: 10.1093/brain/awac460. Brain. 2023. PMID: 36718090 Free PMC article.

5

Note from the editors.

Urv TK, Parisi MA. Urv TK, et al. Am J Med Genet C Semin Med Genet. 2023 Mar;193(1):5-6. doi: 10.1002/ajmg.c.32039. Am J Med Genet C Semin Med Genet. 2023. PMID: 36960570 No abstract available.

6

Participation in a national diagnostic research study: assessing the patient experience.

Rosenfeld LE, LeBlanc K, Nagy A, Ego BK; Undiagnosed Diseases Network; McCray AT. Rosenfeld LE, et al. Orphanet J Rare Dis. 2023 Apr 10;18(1):73. doi: 10.1186/s13023-023-02695-5. Orphanet J Rare Dis. 2023. PMID: 37032333 Free PMC article.

7

A closer look at interpersonal decision-making in adults with and without mental retardation.

Hickson L, Golden H, Khemka I, Urv T, Yamusah S. Hickson L, et al. Among authors: urv t. Am J Ment Retard. 1998 Nov;103(3):209-24. doi: 10.1352/0895-8017(1998)103<0209:ACLAID>2.0.CO;2. Am J Ment Retard. 1998. PMID: 9833653

8

Maladaptive behaviors related to adaptive decline in aging adults with mental retardation.

Urv TK, Zigman WB, Silverman W. Urv TK, et al. Am J Ment Retard. 2003 Sep;108(5):327-39. doi: 10.1352/0895-8017(2003)108<327:MBRTAD>2.0.CO;2. Am J Ment Retard. 2003. PMID: 12901708

9

Incidence and prevalence of dementia in elderly adults with mental retardation without down syndrome.

Zigman WB, Schupf N, Devenny DA, Miezejeski C, Ryan R, Urv TK, Schubert R, Silverman W. Zigman WB, et al. Am J Ment Retard. 2004 Mar;109(2):126-41. doi: 10.1352/0895-8017(2004)109<126:IAPODI>2.0.CO;2. Am J Ment Retard. 2004. PMID: 15000676

10

Cholesterol level, statin use and Alzheimer's disease in adults with Down syndrome.

Zigman WB, Schupf N, Jenkins EC, Urv TK, Tycko B, Silverman W. Zigman WB, et al. Neurosci Lett. 2007 Apr 18;416(3):279-84. doi: 10.1016/j.neulet.2007.02.023. Epub 2007 Feb 11. Neurosci Lett. 2007. PMID: 17353095 Free PMC article.

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