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Results: 1 to 20 of 188

1.

An autopsy case of Hermansky-Pudlak syndrome: a case report and review of the literature on treatment.

Harada T, Ishimatsu Y, Nakashima S, Miura S, Tomonaga M, Kakugawa T, Hara S, Sakamoto N, Yoshii C, Mukae H, Kawabata Y, Kohno S.

Intern Med. 2014;53(23):2705-9. Epub 2014 Dec 1.

PMID:
25447654
[PubMed - in process]
Free Article
2.

Chediak-higashi syndrome presented as accelerated phase: case report and review of the literature.

Bouatay A, Hizem S, Tej A, Moatamri W, Boughamoura L, Kortas M.

Indian J Hematol Blood Transfus. 2014 Sep;30(Suppl 1):223-6. doi: 10.1007/s12288-014-0336-x. Epub 2014 Jan 31.

PMID:
25332584
[PubMed]
3.

Mutational analysis of oculocutaneous albinism: a compact review.

Kamaraj B, Purohit R.

Biomed Res Int. 2014;2014:905472. doi: 10.1155/2014/905472. Epub 2014 Jun 29.

PMID:
25093188
[PubMed - in process]
Free PMC Article
4.

Melanocytes and their diseases.

Yamaguchi Y, Hearing VJ.

Cold Spring Harb Perspect Med. 2014 May 1;4(5). pii: a017046. doi: 10.1101/cshperspect.a017046. Review.

PMID:
24789876
[PubMed - indexed for MEDLINE]
5.

The spectrum of oculocutaneous disease: Part I. Infectious, inflammatory, and genetic causes of oculocutaneous disease.

Horner ME, Abramson AK, Warren RB, Swanson S, Menter MA.

J Am Acad Dermatol. 2014 May;70(5):795.e1-25. doi: 10.1016/j.jaad.2013.12.013. Review.

PMID:
24742848
[PubMed - indexed for MEDLINE]
6.

Genetic variation in regulatory DNA elements: the case of OCA2 transcriptional regulation.

Visser M, Kayser M, Grosveld F, Palstra RJ.

Pigment Cell Melanoma Res. 2014 Mar;27(2):169-77. doi: 10.1111/pcmr.12210. Review.

PMID:
24387780
[PubMed - indexed for MEDLINE]
7.

[Hereditary hypomelanocytoses: the role of PAX3, SOX10, MITF, SNAI2, KIT, EDN3 and EDNRB genes].

Otręba M, Miliński M, Buszman E, Wrześniok D, Beberok A.

Postepy Hig Med Dosw (Online). 2013 Nov 26;67:1109-18. Review. Polish.

PMID:
24379252
[PubMed - indexed for MEDLINE]
8.

Neonatal and maternal risk in Hermansky-Pudlak syndrome: peripartum management-brief report and review of literature.

Bachmann C, Abele H, Wallwiener D, Kagan KO.

Arch Gynecol Obstet. 2014 Jun;289(6):1193-5. doi: 10.1007/s00404-013-3110-7. Epub 2013 Dec 13. Review.

PMID:
24337786
[PubMed - indexed for MEDLINE]
9.

The hermansky-pudlak syndrome: clinical features and imperatives from an ophthalmic perspective.

Schneier AJ, Fulton AB.

Semin Ophthalmol. 2013 Sep-Nov;28(5-6):387-91. doi: 10.3109/08820538.2013.825280. Review.

PMID:
24138047
[PubMed - indexed for MEDLINE]
10.

Clinical, laboratory and molecular signs of immunodeficiency in patients with partial oculo-cutaneous albinism.

Dotta L, Parolini S, Prandini A, Tabellini G, Antolini M, Kingsmore SF, Badolato R.

Orphanet J Rare Dis. 2013 Oct 17;8:168. doi: 10.1186/1750-1172-8-168. Review.

PMID:
24134793
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

High-resolution array-CGH in patients with oculocutaneous albinism identifies new deletions of the TYR, OCA2, and SLC45A2 genes and a complex rearrangement of the OCA2 gene.

Morice-Picard F, Lasseaux E, Cailley D, Gros A, Toutain J, Plaisant C, Simon D, François S, Gilbert-Dussardier B, Kaplan J, Rooryck C, Lacombe D, Arveiler B.

Pigment Cell Melanoma Res. 2014 Jan;27(1):59-71. doi: 10.1111/pcmr.12173. Epub 2013 Oct 23.

PMID:
24118800
[PubMed - indexed for MEDLINE]
12.

Increasing the complexity: new genes and new types of albinism.

Montoliu L, Grønskov K, Wei AH, Martínez-García M, Fernández A, Arveiler B, Morice-Picard F, Riazuddin S, Suzuki T, Ahmed ZM, Rosenberg T, Li W.

Pigment Cell Melanoma Res. 2014 Jan;27(1):11-8. doi: 10.1111/pcmr.12167. Epub 2013 Oct 17. Review.

PMID:
24066960
[PubMed - indexed for MEDLINE]
13.

Oral medicine case book 51: actinic cheilitis in a patient with oculocutaneous albinism.

Wood NH, Moodley A.

SADJ. 2013 Jul;68(6):278-81. Review.

PMID:
23971281
[PubMed - indexed for MEDLINE]
14.

Evidence for defective Rab GTPase-dependent cargo traffic in immune disorders.

Krzewski K, Cullinane AR.

Exp Cell Res. 2013 Sep 10;319(15):2360-7. doi: 10.1016/j.yexcr.2013.06.012. Epub 2013 Jun 26. Review.

PMID:
23810987
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

The etiology and molecular genetics of human pigmentation disorders.

Baxter LL, Pavan WJ.

Wiley Interdiscip Rev Dev Biol. 2013 May-Jun;2(3):379-92. doi: 10.1002/wdev.72. Epub 2012 May 17. Review.

PMID:
23799582
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Oculocutaneous albinism.

David CV.

Cutis. 2013 May;91(5):E1-4. Review. No abstract available.

PMID:
23772437
[PubMed - indexed for MEDLINE]
17.

Hermansky-Pudlak syndrome: health care throughout life.

Seward SL Jr, Gahl WA.

Pediatrics. 2013 Jul;132(1):153-60. doi: 10.1542/peds.2012-4003. Epub 2013 Jun 10. Review.

PMID:
23753089
[PubMed - indexed for MEDLINE]
Free Article
18.

Hypopigmentation in Hermansky-Pudlak syndrome.

Wei AH, He X, Li W.

J Dermatol. 2013 May;40(5):325-9. doi: 10.1111/1346-8138.12025. Review.

PMID:
23668540
[PubMed - indexed for MEDLINE]
19.

Albinism in Europe.

Mártinez-García M, Montoliu L.

J Dermatol. 2013 May;40(5):319-24. doi: 10.1111/1346-8138.12170. Review.

PMID:
23668539
[PubMed - indexed for MEDLINE]
20.

Pleiotropic effects of coat colour-associated mutations in humans, mice and other mammals.

Reissmann M, Ludwig A.

Semin Cell Dev Biol. 2013 Jun-Jul;24(6-7):576-86. doi: 10.1016/j.semcdb.2013.03.014. Epub 2013 Apr 9. Review.

PMID:
23583561
[PubMed - indexed for MEDLINE]
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