Pai GS - Search Results

1

X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene.

Knight SW, Heiss NS, Vulliamy TJ, Greschner S, Stavrides G, Pai GS, Lestringant G, Varma N, Mason PJ, Dokal I, Poustka A. Knight SW, et al. Among authors: pai gs. Am J Hum Genet. 1999 Jul;65(1):50-8. doi: 10.1086/302446. Am J Hum Genet. 1999. PMID: 10364516 Free PMC article.

2

Molecular evidence that the p55 gene is not responsible for either of two Xq28-linked disorders: Emery-Dreifuss muscular dystrophy and dyskeratosis congenita.

Metzenberg AB, Pan Y, Das S, Pai GS, Gitschier J. Metzenberg AB, et al. Among authors: pai gs. Am J Hum Genet. 1994 May;54(5):920-2. Am J Hum Genet. 1994. PMID: 8178832 Free PMC article. No abstract available.

3

Mutational analysis of the biglycan gene excludes it as a candidate for X-linked dominant chondrodysplasia punctata, dyskeratosis congenita, and incontinentia pigmenti.

Das S, Metzenberg A, Pai GS, Gitschier J. Das S, et al. Among authors: pai gs. Am J Hum Genet. 1994 May;54(5):922-5. Am J Hum Genet. 1994. PMID: 8178833 Free PMC article. No abstract available.

4

Lethal multiple pterygium syndrome in four male fetuses in a family: evidence for an X-linked recessive subtype?

Meyer-Cohen J, Dillon A, Pai GS, Conradi S. Meyer-Cohen J, et al. Among authors: pai gs. Am J Med Genet. 1999 Jan 1;82(1):97-9. doi: 10.1002/(sici)1096-8628(19990101)82:1<97::aid-ajmg22>3.0.co;2-g. Am J Med Genet. 1999. PMID: 9916854 Review. No abstract available.

5

Identical multiple congenital anomalies/mental retardation (MCA/MR) syndrome due to del(2)(q32) in two sisters with intrachromosomal insertional translocation in their father.

Pai GS, Rogers JF, Sommer A. Pai GS, et al. Am J Med Genet. 1983 Jan;14(1):189-95. doi: 10.1002/ajmg.1320140125. Am J Med Genet. 1983. PMID: 6829607

6

Molecular analysis of a complex chromosomal rearrangement and a review of familial cases.

Batista DA, Pai GS, Stetten G. Batista DA, et al. Among authors: pai gs. Am J Med Genet. 1994 Nov 15;53(3):255-63. doi: 10.1002/ajmg.1320530311. Am J Med Genet. 1994. PMID: 7856662 Review.

7

Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome.

Currier SC, Lee CK, Chang BS, Bodell AL, Pai GS, Job L, Lagae LG, Al-Gazali LI, Eyaid WM, Enns G, Dobyns WB, Walsh CA. Currier SC, et al. Among authors: pai gs. Am J Med Genet A. 2005 Feb 15;133A(1):53-7. doi: 10.1002/ajmg.a.30487. Am J Med Genet A. 2005. PMID: 15637732

8

The role of precautions: Organising a medical conference during COVID-19 pandemic-Lessons from IADVL MIDDERMACON 2021.

Bhat R, Kamath SD, Sequeira N, Raina S, Pai GS, Sukumar D, Martis J. Bhat R, et al. Among authors: pai gs. JEADV Clin Pract. 2022 Sep;1(3):264-267. doi: 10.1002/jvc2.32. Epub 2022 Jun 14. JEADV Clin Pract. 2022. PMID: 37830035 Free PMC article.

9

Inherited Retinal Dystrophy in Southeastern United States: Characterization of South Carolina Patients and Comparative Literature Review.

Griffith J 3rd, Sioufi K, Wilbanks L, Magrath GN, Say EAT, Lyons MJ, Wilkes M, Pai GS, Peterseim MMW. Griffith J 3rd, et al. Among authors: pai gs. Genes (Basel). 2022 Aug 20;13(8):1490. doi: 10.3390/genes13081490. Genes (Basel). 2022. PMID: 36011402 Free PMC article.

10

[¹³C]-galactose breath test in a patient with galactokinase deficiency and spastic diparesis.

Ficicioglu C, Demirbas D, Derks B, Pai GS, Timson DJ, Rubio-Gozalbo ME, Berry GT. Ficicioglu C, et al. Among authors: pai gs. JIMD Rep. 2021 Feb 3;59(1):104-109. doi: 10.1002/jmd2.12205. eCollection 2021 May. JIMD Rep. 2021. PMID: 33977035 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

101 results

Search Page

Filters