Erickson RP - Search Results

1

Navajo microvillous inclusion disease is due to a mutation in MYO5B.

Erickson RP, Larson-Thomé K, Valenzuela RK, Whitaker SE, Shub MD. Erickson RP, et al. Am J Med Genet A. 2008 Dec 15;146A(24):3117-9. doi: 10.1002/ajmg.a.32605. Am J Med Genet A. 2008. PMID: 19006234

2

Agenesis of tibia with bifid femur, congenital heart disease, and cleft lip with cleft palate or tracheoesophageal fistula: possible variants of Gollop-Wolfgang complex.

Erickson RP. Erickson RP. Am J Med Genet A. 2005 Apr 30;134(3):315-7. doi: 10.1002/ajmg.a.30636. Am J Med Genet A. 2005. PMID: 15732065

3

Oro-facial-digital syndrome IX with severe microcephaly: a new variant in a genetically isolated population.

Erickson RP, Bodensteiner JB. Erickson RP, et al. Am J Med Genet A. 2007 Dec 15;143A(24):3309-13. doi: 10.1002/ajmg.a.31976. Am J Med Genet A. 2007. PMID: 18000902

4

Variation in NPC1, the gene encoding Niemann-Pick C1, a protein involved in intracellular cholesterol transport, is associated with Alzheimer disease and/or aging in the Polish population.

Erickson RP, Larson-Thomé K, Weberg L, Szybinska A, Mossakowska M, Styczynska M, Barcikowska M, Kuznicki J. Erickson RP, et al. Neurosci Lett. 2008 Dec 12;447(2-3):153-7. doi: 10.1016/j.neulet.2008.09.046. Epub 2008 Sep 24. Neurosci Lett. 2008. PMID: 18834923 Free PMC article.

5

Autosomal recessive diseases among the Athabaskans of the southwestern United States: recent advances and implications for the future.

Erickson RP. Erickson RP. Am J Med Genet A. 2009 Nov;149A(11):2602-11. doi: 10.1002/ajmg.a.33052. Am J Med Genet A. 2009. PMID: 19842189 Review.

6

Autosomal recessive diseases among the Athabaskans of the southwestern United States: anthropological, medical, and scientific aspects.

Erickson RP. Erickson RP. J Appl Genet. 2021 Sep;62(3):445-453. doi: 10.1007/s13353-021-00630-7. Epub 2021 Apr 21. J Appl Genet. 2021. PMID: 33880741 Free PMC article. Review.

7

Pulmonary atresia associated with maternal 22q11.2 deletion: possible parent of origin effect in the conotruncal anomaly face syndrome.

Seaver LH, Pierpont JW, Erickson RP, Donnerstein RL, Cassidy SB. Seaver LH, et al. Among authors: erickson rp. J Med Genet. 1994 Nov;31(11):830-4. doi: 10.1136/jmg.31.11.830. J Med Genet. 1994. PMID: 7853364 Free PMC article.

8

Female pseudohermaphroditism with multiple caudal anomalies: absence of Y-specific DNA sequences as pathogenetic factors.

Seaver LH, Grimes J, Erickson RP. Seaver LH, et al. Among authors: erickson rp. Am J Med Genet. 1994 May 15;51(1):16-21. doi: 10.1002/ajmg.1320510105. Am J Med Genet. 1994. PMID: 7913293

9

True hermaphroditism with partial duplication of chromosome 22 and without SRY.

Aleck KA, Argueso L, Stone J, Hackel JG, Erickson RP. Aleck KA, et al. Among authors: erickson rp. Am J Med Genet. 1999 Jul 2;85(1):2-4. doi: 10.1002/(sici)1096-8628(19990702)85:1<2::aid-ajmg2>3.0.co;2-g. Am J Med Genet. 1999. PMID: 10377005

10

Variable presentation of Rothmund-Thomson syndrome.

Pujol LA, Erickson RP, Heidenreich RA, Cunniff C. Pujol LA, et al. Among authors: erickson rp. Am J Med Genet. 2000 Nov 27;95(3):204-7. Am J Med Genet. 2000. PMID: 11102924

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