Shanske A - Search Results

1

Clinical and genetic features in two families with MELAS and the T3271C mutation in mitochondrial DNA.

Tay SK, Shanske S, Crowe C, Shanske A, Schafer I, Pancrudo J, Lu J, Bonilla E, DiMauro S. Tay SK, et al. Among authors: shanske a, shanske s. J Child Neurol. 2005 Feb;20(2):142-6. doi: 10.1177/08830738050200022301. J Child Neurol. 2005. PMID: 15794182

2

Two large Spanish pedigrees with nonsyndromic sensorineural deafness and the mtDNA mutation at nt 1555 in the 12s rRNA gene: evidence of heteroplasmy.

el-Schahawi M, López de Munain A, Sarrazin AM, Shanske AL, Basirico M, Shanske S, DiMauro S. el-Schahawi M, et al. Among authors: shanske al, shanske s. Neurology. 1997 Feb;48(2):453-6. doi: 10.1212/wnl.48.2.453. Neurology. 1997. PMID: 9040738

3

MELAS point mutation with unusual clinical presentation.

Shanske AL, Shanske S, Silvestri G, Tanji K, Wertheim D, Lipper S. Shanske AL, et al. Among authors: shanske s. Neuromuscul Disord. 1993 May;3(3):191-3. doi: 10.1016/0960-8966(93)90058-r. Neuromuscul Disord. 1993. PMID: 8400859

4

The other human genome.

Shanske AL, Shanske S, DiMauro S. Shanske AL, et al. Among authors: shanske s. Arch Pediatr Adolesc Med. 2001 Nov;155(11):1210-6. doi: 10.1001/archpedi.155.11.1210. Arch Pediatr Adolesc Med. 2001. PMID: 11695929 Review.

5

Mutations in GJB2, GJB6, and mitochondrial DNA are rare in African American and Caribbean Hispanic individuals with hearing impairment.

Samanich J, Lowes C, Burk R, Shanske S, Lu J, Shanske A, Morrow BE. Samanich J, et al. Among authors: shanske a, shanske s. Am J Med Genet A. 2007 Apr 15;143A(8):830-8. doi: 10.1002/ajmg.a.31668. Am J Med Genet A. 2007. PMID: 17357124

6

Joubert syndrome: monozygotic twins with discordant phenotypes.

Raynes HR, Shanske A, Goldberg S, Burde R, Rapin I. Raynes HR, et al. Among authors: shanske a. J Child Neurol. 1999 Oct;14(10):649-54; discussion 669-72 discussio. doi: 10.1177/088307389901401005. J Child Neurol. 1999. PMID: 10511337

7

A large Alu-mediated deletion, identified by PCR, as the molecular basis for glycogen storage disease type II (GSDII).

Huie ML, Shanske AL, Kasper JS, Marion RW, Hirschhorn R. Huie ML, et al. Among authors: shanske al. Hum Genet. 1999 Jan;104(1):94-8. doi: 10.1007/s004390050916. Hum Genet. 1999. PMID: 10071199

8

TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome.

McDermott DA, Bressan MC, He J, Lee JS, Aftimos S, Brueckner M, Gilbert F, Graham GE, Hannibal MC, Innis JW, Pierpont ME, Raas-Rothschild A, Shanske AL, Smith WE, Spencer RH, St John-Sutton MG, van Maldergem L, Waggoner DJ, Weber M, Basson CT. McDermott DA, et al. Among authors: shanske al. Pediatr Res. 2005 Nov;58(5):981-6. doi: 10.1203/01.PDR.0000182593.95441.64. Epub 2005 Sep 23. Pediatr Res. 2005. PMID: 16183809

9

The proximal chromosome 14q microdeletion syndrome: delineation of the phenotype using high resolution SNP oligonucleotide microarray analysis (SOMA) and review of the literature.

Torgyekes E, Shanske AL, Anyane-Yeboa K, Nahum O, Pirzadeh S, Blumfield E, Jobanputra V, Warburton D, Levy B. Torgyekes E, et al. Among authors: shanske al. Am J Med Genet A. 2011 Aug;155A(8):1884-96. doi: 10.1002/ajmg.a.34090. Epub 2011 Jul 8. Am J Med Genet A. 2011. PMID: 21744488 Review.

10

A recurring FBN1 gene mutation in neonatal Marfan syndrome.

Jacobs AM, Toudjarska I, Racine A, Tsipouras P, Kilpatrick MW, Shanske A. Jacobs AM, et al. Among authors: shanske a. Arch Pediatr Adolesc Med. 2002 Nov;156(11):1081-5. doi: 10.1001/archpedi.156.11.1081. Arch Pediatr Adolesc Med. 2002. PMID: 12413333

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