Fisher J - Search Results

1

Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28.

Gripp KW, Curry C, Olney AH, Sandoval C, Fisher J, Chong JX; UW Center for Mendelian Genomics; Pilchman L, Sahraoui R, Stabley DL, Sol-Church K. Gripp KW, et al. Among authors: fisher j. Am J Med Genet A. 2014 Sep;164A(9):2240-9. doi: 10.1002/ajmg.a.36633. Epub 2014 Jun 18. Am J Med Genet A. 2014. PMID: 24942156 Free PMC article.

2

Perinatal features of the RASopathies: Noonan syndrome, cardiofaciocutaneous syndrome and Costello syndrome.

Myers A, Bernstein JA, Brennan ML, Curry C, Esplin ED, Fisher J, Homeyer M, Manning MA, Muller EA, Niemi AK, Seaver LH, Hintz SR, Hudgins L. Myers A, et al. Among authors: fisher j. Am J Med Genet A. 2014 Nov;164A(11):2814-21. doi: 10.1002/ajmg.a.36737. Epub 2014 Sep 22. Am J Med Genet A. 2014. PMID: 25250515 Review.

3

A novel mutation in two Hmong families broadens the range of STRA6-related malformations to include contractures and camptodactyly.

Marcadier JL, Mears AJ, Woods EA, Fisher J, Airheart C, Qin W, Beaulieu CL, Dyment DA, Innes AM, Curry CJ; Care4Rare Canada Consortium. Marcadier JL, et al. Among authors: fisher j. Am J Med Genet A. 2016 Jan;170A(1):11-8. doi: 10.1002/ajmg.a.37389. Epub 2015 Sep 16. Am J Med Genet A. 2016. PMID: 26373900

4

Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations.

Monteiro FP, Curry CJ, Hevner R, Elliott S, Fisher JH, Turocy J, Dobyns WB, Costa LA, Freitas E, Kitajima JP, Kok F. Monteiro FP, et al. Among authors: fisher jh. Eur J Med Genet. 2020 Jan;63(1):103624. doi: 10.1016/j.ejmg.2019.01.014. Epub 2019 Jan 25. Eur J Med Genet. 2020. PMID: 30690204

5

Trisomy 12 mosaicism confirmed in multiple organs from a liveborn child.

DeLozier-Blanchet CD, Roeder E, Denis-Arrue R, Blouin JL, Low J, Fisher J, Scharnhorst D, Curry CJ. DeLozier-Blanchet CD, et al. Among authors: fisher j. Am J Med Genet. 2000 Dec 18;95(5):444-9. doi: 10.1002/1096-8628(20001218)95:5<444::aid-ajmg7>3.0.co;2-x. Am J Med Genet. 2000. PMID: 11146464

6

Gastrointestinal tract anomalies in velocardiofacial syndrome.

Enns GM, Cox VA, Golabi M, Immken L, Fisher J, Curry C. Enns GM, et al. Among authors: fisher j. Am J Med Genet. 1999 Jun 4;84(4):382-3. doi: 10.1002/(sici)1096-8628(19990604)84:4<382::aid-ajmg16>3.0.co;2-1. Am J Med Genet. 1999. PMID: 10340658 No abstract available.

7

Investigation of NRXN1 deletions: clinical and molecular characterization.

Dabell MP, Rosenfeld JA, Bader P, Escobar LF, El-Khechen D, Vallee SE, Dinulos MB, Curry C, Fisher J, Tervo R, Hannibal MC, Siefkas K, Wyatt PR, Hughes L, Smith R, Ellingwood S, Lacassie Y, Stroud T, Farrell SA, Sanchez-Lara PA, Randolph LM, Niyazov D, Stevens CA, Schoonveld C, Skidmore D, MacKay S, Miles JH, Moodley M, Huillet A, Neill NJ, Ellison JW, Ballif BC, Shaffer LG. Dabell MP, et al. Among authors: fisher j. Am J Med Genet A. 2013 Apr;161A(4):717-31. doi: 10.1002/ajmg.a.35780. Epub 2013 Mar 12. Am J Med Genet A. 2013. PMID: 23495017

8

Detection of a de novo interstitial 2q microdeletion by CGH microarray analysis in a patient with limb malformations, microcephaly and mental retardation.

Svensson AM, Curry CJ, South ST, Whitby H, Maxwell TM, Aston E, Fisher J, Carmack CE, Scheffer A, Abu-Shamsieh A, Brothman AR. Svensson AM, et al. Among authors: fisher j. Am J Med Genet A. 2007 Jun 15;143A(12):1348-53. doi: 10.1002/ajmg.a.31775. Am J Med Genet A. 2007. PMID: 17506097

9

Lethal acantholytic epidermolysis bullosa due to a novel homozygous deletion in DSP: expanding the phenotype and implications for desmoplakin function in skin and heart.

Bolling MC, Veenstra MJ, Jonkman MF, Diercks GF, Curry CJ, Fisher J, Pas HH, Bruckner AL. Bolling MC, et al. Among authors: fisher j. Br J Dermatol. 2010 Jun;162(6):1388-94. doi: 10.1111/j.1365-2133.2010.09668.x. Epub 2010 Mar 10. Br J Dermatol. 2010. PMID: 20302578

10

Genotype-phenotype correlation in interstitial 6q deletions: a report of 12 new cases.

Rosenfeld JA, Amrom D, Andermann E, Andermann F, Veilleux M, Curry C, Fisher J, Deputy S, Aylsworth AS, Powell CM, Manickam K, Heese B, Maisenbacher M, Stevens C, Ellison JW, Upton S, Moeschler J, Torres-Martinez W, Stevens A, Marion R, Pereira EM, Babcock M, Morrow B, Sahoo T, Lamb AN, Ballif BC, Paciorkowski AR, Shaffer LG. Rosenfeld JA, et al. Among authors: fisher j. Neurogenetics. 2012 Feb;13(1):31-47. doi: 10.1007/s10048-011-0306-5. Epub 2012 Jan 5. Neurogenetics. 2012. PMID: 22218741

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