Risheg H - Search Results

Year	Number of Results
2002	1
2003	1
2005	1
2006	1
2007	2
2011	2
2013	3
2015	2
2017	2
2024	0

1

Rehm HL, Berg JS, Brooks LD, Bustamante CD, Evans JP, Landrum MJ, Ledbetter DH, Maglott DR, Martin CL, Nussbaum RL, Plon SE, Ramos EM, Sherry ST, Watson MS; ClinGen. Rehm HL, et al. N Engl J Med. 2015 Jun 4;372(23):2235-42. doi: 10.1056/NEJMsr1406261. Epub 2015 May 27. N Engl J Med. 2015. PMID: 26014595 Free PMC article.

2

Molecular studies of liver disease in erythropoietic protoporphyria.

Bloomer J, Wang Y, Singhal A, Risheg H. Bloomer J, et al. Among authors: risheg h. J Clin Gastroenterol. 2005 Apr;39(4 Suppl 2):S167-75. doi: 10.1097/01.mcg.0000155518.96629.ea. J Clin Gastroenterol. 2005. PMID: 15758654 Review.

3

6q25.1 (TAB2) microdeletion syndrome: Congenital heart defects and cardiomyopathy.

Cheng A, Dinulos MBP, Neufeld-Kaiser W, Rosenfeld J, Kyriss M, Madan-Khetarpal S, Risheg H, Byers PH, Liu YJ. Cheng A, et al. Among authors: risheg h. Am J Med Genet A. 2017 Jul;173(7):1848-1857. doi: 10.1002/ajmg.a.38254. Epub 2017 May 2. Am J Med Genet A. 2017. PMID: 28464518

4

Clinical comparison of overlapping deletions of 19p13.3.

Risheg H, Pasion R, Sacharow S, Proud V, Immken L, Schwartz S, Tepperberg JH, Papenhausen P, Tan TY, Andrieux J, Plessis G, Amor DJ, Keitges EA. Risheg H, et al. Am J Med Genet A. 2013 May;161A(5):1110-6. doi: 10.1002/ajmg.a.35923. Am J Med Genet A. 2013. PMID: 23610052

5

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: risheg h. 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

6

Partial monosomy of 11q22.2q22.3 including the SDHD gene in individuals with developmental delay.

Yelavarthi K, Cabral H, Wilson GN, Rohena L, Risheg H, Penton A, Schleede J, Burnside RD. Yelavarthi K, et al. Among authors: risheg h. Am J Med Genet A. 2015 Apr;167A(4):695-700. doi: 10.1002/ajmg.a.36956. Epub 2015 Mar 3. Am J Med Genet A. 2015. PMID: 25735893

7

Ferrochelatase gene mutations in erythropoietic protoporphyria: focus on liver disease.

Chen FP, Risheg H, Liu Y, Bloomer J. Chen FP, et al. Among authors: risheg h. Cell Mol Biol (Noisy-le-grand). 2002 Feb;48(1):83-9. Cell Mol Biol (Noisy-le-grand). 2002. PMID: 11929052

8

A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome.

Risheg H, Graham JM Jr, Clark RD, Rogers RC, Opitz JM, Moeschler JB, Peiffer AP, May M, Joseph SM, Jones JR, Stevenson RE, Schwartz CE, Friez MJ. Risheg H, et al. Nat Genet. 2007 Apr;39(4):451-3. doi: 10.1038/ng1992. Epub 2007 Mar 4. Nat Genet. 2007. PMID: 17334363

9

Response to Growth Hormone Treatment in a Patient with Insulin-Like Growth Factor 1 Receptor Deletion.

Mahmoud R, Naidu A, Risheg H, Kimonis V. Mahmoud R, et al. Among authors: risheg h. J Clin Res Pediatr Endocrinol. 2017 Dec 15;9(4):380-386. doi: 10.4274/jcrpe.4456. Epub 2017 Jul 17. J Clin Res Pediatr Endocrinol. 2017. PMID: 28720553 Free PMC article.

10

Biochemical abnormality in erythropoietic protoporphyria: cause and consequences.

Bloomer JR, Wang Y, Singhal A, Risheg H. Bloomer JR, et al. Among authors: risheg h. J Pediatr Gastroenterol Nutr. 2006 Jul;43 Suppl 1:S36-40. doi: 10.1097/01.mpg.0000226388.56612.fa. J Pediatr Gastroenterol Nutr. 2006. PMID: 16819399

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