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Items: 1 to 20 of 115

1.

Oculocutaneous Albinism Type 4.

Hayashi M, Suzuki T.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2005 Nov 17 [updated 2017 Sep 7].

2.

Oculocutaneous Albinism Type 2.

Lewis RA.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2003 Jul 17 [updated 2012 Aug 16].

3.

Oculocutaneous Albinism Type 1.

Lewis RA.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2000 Jan 19 [updated 2013 May 16].

4.

Oculocutaneous albinism.

Grønskov K, Ek J, Brondum-Nielsen K.

Orphanet J Rare Dis. 2007 Nov 2;2:43. Review.

5.

Hermansky-Pudlak Syndrome.

Huizing M, Malicdan MCV, Gochuico BR, Gahl WA.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2000 Jul 24 [updated 2017 Oct 26].

6.

Ocular Albinism, X-Linked.

Lewis RA.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2004 Mar 12 [updated 2015 Nov 19].

7.

Oculocutaneous albinism type 1A: a case report.

Karaman A.

Dermatol Online J. 2008 Nov 15;14(11):13. Review.

PMID:
19094851
8.

Congenital Erythropoietic Porphyria.

Erwin A, Balwani M, Desnick RJ; Porphyrias Consortium of the NIH-Sponsored Rare Diseases Clinical Research Network.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2013 Sep 12 [updated 2016 Apr 7].

9.

Erythropoietic Protoporphyria, Autosomal Recessive.

Balwani M, Bloomer J, Desnick R; Porphyrias Consortium of the NIH-Sponsored Rare Diseases Clinical Research Network.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2012 Sep 27 [updated 2017 Sep 7].

10.

SLC45A2 mutation frequency in Oculocutaneous Albinism Italian patients doesn't differ from other European studies.

Mauri L, Barone L, Al Oum M, Del Longo A, Piozzi E, Manfredini E, Stanzial F, Benedicenti F, Penco S, Patrosso MC.

Gene. 2014 Jan 1;533(1):398-402. doi: 10.1016/j.gene.2013.09.053. Epub 2013 Oct 3.

PMID:
24096233
11.

Epidermolysis Bullosa Simplex.

Pfendner EG, Bruckner AL.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
1998 Oct 7 [updated 2016 Oct 13].

12.

Fanconi Anemia.

Mehta PA, Tolar J.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2002 Feb 14 [updated 2017 Feb 23].

13.

Achromatopsia.

Kohl S, Jägle H, Wissinger B.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2004 Jun 24 [updated 2016 Feb 25].

14.

Variable expression of vision in sibs with albinism.

Summers CG, Creel D, Townsend D, King RA.

Am J Med Genet. 1991 Sep 1;40(3):327-31.

PMID:
1951438
15.

Xeroderma Pigmentosum.

Kraemer KH, DiGiovanna JJ.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2003 Jun 20 [updated 2016 Sep 29].

16.

Primary Congenital Glaucoma.

Abu-Amero KK, Edward DP.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2004 Sep 30 [updated 2017 Aug 17].

17.

Congenital Fibrosis of the Extraocular Muscles.

Whitman M, Hunter DG, Engle EC.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2004 Apr 27 [updated 2016 Jan 14].

18.

Ophthalmic features of minimal pigment oculocutaneous albinism.

Summers CG, King RA.

Ophthalmology. 1994 May;101(5):906-14.

PMID:
8190479
19.

Aniridia.

Hingorani M, Moore A.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2003 May 20 [updated 2013 Nov 14].

20.

Albinism and the associated ocular defects.

Oetting WS, Summers CG, King RA.

Metab Pediatr Syst Ophthalmol (1985). 1994;17(1-4):5-9. Review.

PMID:
8719278

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