Gadi I - Search Results

1

Glucose metabolism and insulin secretion in a patient with ABCC8 mutation and Fanconi-Bickel syndrome caused by maternal isodisomy of chromosome 3.

Hoffman TL, Blanco E, Lane A, Galvin-Parton P, Gadi I, Santer R, DeLeón D, Stanley C, Wilson TA. Hoffman TL, et al. Among authors: gadi i. Clin Genet. 2007 Jun;71(6):551-7. doi: 10.1111/j.1399-0004.2007.00802.x. Clin Genet. 2007. PMID: 17539904

2

Mosaic paternal genome-wide uniparental isodisomy with down syndrome.

Darcy D, Atwal PS, Angell C, Gadi I, Wallerstein R. Darcy D, et al. Among authors: gadi i. Am J Med Genet A. 2015 Oct;167A(10):2463-9. doi: 10.1002/ajmg.a.37187. Epub 2015 Jul 29. Am J Med Genet A. 2015. PMID: 26219535

3

A prenatal diagnosis of mosaic trisomy 5 reveals a postnatal complete uniparental disomy of chromosome 5 with multiple congenital anomalies.

Reittinger AM, Helm BM, Boles DJ, Gadi IK, Schrier Vergano SA. Reittinger AM, et al. Am J Med Genet A. 2017 Sep;173(9):2528-2533. doi: 10.1002/ajmg.a.38344. Epub 2017 Jun 27. Am J Med Genet A. 2017. PMID: 28653809

4

Phenotypic heterogeneity in a family with a small atypical microduplication of chromosome 22q11.2 involving TBX1.

Weisfeld-Adams JD, Edelmann L, Gadi IK, Mehta L. Weisfeld-Adams JD, et al. Eur J Med Genet. 2012 Dec;55(12):732-6. doi: 10.1016/j.ejmg.2012.08.011. Epub 2012 Oct 9. Eur J Med Genet. 2012. PMID: 23059467

5

Maternal uniparental isodisomy causing autosomal recessive GM1 gangliosidosis: a clinical report.

King JE, Dexter A, Gadi I, Zvereff V, Martin M, Bloom M, Vanderver A, Pizzino A, Schmidt JL. King JE, et al. Among authors: gadi i. J Genet Couns. 2014 Oct;23(5):734-41. doi: 10.1007/s10897-014-9720-9. Epub 2014 Apr 30. J Genet Couns. 2014. PMID: 24777551 Review.

6

Partial trisomy 19p13.3 and partial monosomy 1p36.3: Clinical report and a literature review.

Puvabanditsin S, Garrow E, Brandsma E, Savla J, Kunjumon B, Gadi I. Puvabanditsin S, et al. Among authors: gadi i. Am J Med Genet A. 2009 Aug;149A(8):1782-5. doi: 10.1002/ajmg.a.32972. Am J Med Genet A. 2009. PMID: 19610110 Review.

7

UPD detection using homozygosity profiling with a SNP genotyping microarray.

Papenhausen P, Schwartz S, Risheg H, Keitges E, Gadi I, Burnside RD, Jaswaney V, Pappas J, Pasion R, Friedman K, Tepperberg J. Papenhausen P, et al. Among authors: gadi i. Am J Med Genet A. 2011 Apr;155A(4):757-68. doi: 10.1002/ajmg.a.33939. Epub 2011 Mar 15. Am J Med Genet A. 2011. PMID: 21594998

8

Three cases of isolated terminal deletion of chromosome 8p without heart defects presenting with a mild phenotype.

Burnside RD, Pappas JG, Sacharow S, Applegate C, Hamosh A, Gadi IK, Jaswaney V, Keitges E, Phillips KK, Potluri VR, Risheg H, Smith JL, Tepperberg JH, Schwartz S, Papenhausen P. Burnside RD, et al. Am J Med Genet A. 2013 Apr;161A(4):822-8. doi: 10.1002/ajmg.a.35699. Epub 2013 Mar 12. Am J Med Genet A. 2013. PMID: 23495222

9

Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay.

Burnside RD, Pasion R, Mikhail FM, Carroll AJ, Robin NH, Youngs EL, Gadi IK, Keitges E, Jaswaney VL, Papenhausen PR, Potluri VR, Risheg H, Rush B, Smith JL, Schwartz S, Tepperberg JH, Butler MG. Burnside RD, et al. Hum Genet. 2011 Oct;130(4):517-28. doi: 10.1007/s00439-011-0970-4. Epub 2011 Feb 27. Hum Genet. 2011. PMID: 21359847 Free PMC article.

10

Ovotesticular disorder of sexual development (true hermaphroditism).

Berger-Zaslav AL, Mehta L, Jacob J, Mercado T, Gadi I, Tepperberg JH, Palmer LS. Berger-Zaslav AL, et al. Among authors: gadi i. Urology. 2009 Feb;73(2):293-6. doi: 10.1016/j.urology.2008.08.428. Epub 2008 Sep 26. Urology. 2009. PMID: 18822450

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