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Results: 1 to 20 of 103

1.

Two distinct phenotypes in pigmented cells of different embryonic origins in eyes of pale ear mice.

Jing R, Dong X, Li K, Zhang J, Yan J, Feng L.

Exp Eye Res. 2014 Feb;119:35-43. doi: 10.1016/j.exer.2013.12.007. Epub 2013 Dec 17.

PMID:
24361037
[PubMed - indexed for MEDLINE]
2.

Hermansky Pudlak Syndrome and Pulmonary Alveolar Proteinosis at the same patient: first case report in the world literature.

Ozyilmaz E, Gunasti S, Kuyuku Y, Kuleci S, Hanta I, Kocabas A.

Sarcoidosis Vasc Diffuse Lung Dis. 2013 Nov 25;30(3):217-20.

PMID:
24284295
[PubMed - in process]
3.

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
[PubMed - indexed for MEDLINE]
4.

Presence of fusion in albinism after strabismus surgery augmented with botulinum toxin (type a) injection.

Tavakolizadeh S, Farahi A.

Korean J Ophthalmol. 2013 Aug;27(4):308-10. doi: 10.3341/kjo.2013.27.4.308. Epub 2013 Jul 23.

PMID:
23908581
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

[A hemophagocytic syndrome revealing a Griscelli syndrome type 2].

Jennane S, El Kababri M, Hessissen L, Kili A, Nachef MN, Messaoudi N, Doghmi K, Mikdame M, El Khorassani M, Khattab M.

Ann Biol Clin (Paris). 2013 Jul-Aug;71(4):461-4. doi: 10.1684/abc.2013.0860. French.

PMID:
23906575
[PubMed - indexed for MEDLINE]
6.

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]
7.

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
8.

Reduced glutathione disrupts the intracellular trafficking of tyrosinase and tyrosinase-related protein-1 but not dopachrome tautomerase and Pmel17 to melanosomes, which results in the attenuation of melanization.

Nakajima H, Nagata T, Koga S, Imokawa G.

Arch Dermatol Res. 2014 Jan;306(1):37-49. doi: 10.1007/s00403-013-1376-z. Epub 2013 Jun 14.

PMID:
23764898
[PubMed - in process]
9.

[A de novo mutation of P gene causes oculocutaneous albinism type 2 with prenatal diagnosis].

Zhang L, Xu B, Zhong Y, Chen X, Zheng H, Jiang W, Li H.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013 Jun;30(3):318-21. doi: 10.3760/cma.j.issn.1003-9406.2013.03.015. Chinese.

PMID:
23744323
[PubMed - indexed for MEDLINE]
10.

The genome sequencing of an albino Western lowland gorilla reveals inbreeding in the wild.

Prado-Martinez J, Hernando-Herraez I, Lorente-Galdos B, Dabad M, Ramirez O, Baeza-Delgado C, Morcillo-Suarez C, Alkan C, Hormozdiari F, Raineri E, Estellé J, Fernandez-Callejo M, Valles M, Ritscher L, Schöneberg T, de la Calle-Mustienes E, Casillas S, Rubio-Acero R, Melé M, Engelken J, Caceres M, Gomez-Skarmeta JL, Gut M, Bertranpetit J, Gut IG, Abello T, Eichler EE, Mingarro I, Lalueza-Fox C, Navarro A, Marques-Bonet T.

BMC Genomics. 2013 May 31;14:363. doi: 10.1186/1471-2164-14-363.

PMID:
23721540
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

The WASH complex, an endosomal Arp2/3 activator, interacts with the Hermansky-Pudlak syndrome complex BLOC-1 and its cargo phosphatidylinositol-4-kinase type IIα.

Ryder PV, Vistein R, Gokhale A, Seaman MN, Puthenveedu MA, Faundez V.

Mol Biol Cell. 2013 Jul;24(14):2269-84. doi: 10.1091/mbc.E13-02-0088. Epub 2013 May 15.

PMID:
23676666
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

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.

PMID:
23583561
[PubMed - in process]
13.

Genetic modulation of the iris transillumination defect: a systems genetics analysis using the expanded family of BXD glaucoma strains.

Swaminathan S, Lu H, Williams RW, Lu L, Jablonski MM.

Pigment Cell Melanoma Res. 2013 Jul;26(4):487-98. doi: 10.1111/pcmr.12106. Epub 2013 May 13.

PMID:
23582180
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

An association study of the Hermansky-Pudlak syndrome type 4 gene in schizophrenic patients.

Saito A, Kuratomi G, Ito C, Matsuoka H, Suzuki T, Ozeki Y, Watanabe T, Fujii K, Shimoda K, Fukushima Y, Inukai T, Ohmori K, Akiyama K.

Psychiatr Genet. 2013 Aug;23(4):163-73. doi: 10.1097/YPG.0b013e32836130a9.

PMID:
23563589
[PubMed - indexed for MEDLINE]
15.

Genetic architecture of skin and eye color in an African-European admixed population.

Beleza S, Johnson NA, Candille SI, Absher DM, Coram MA, Lopes J, Campos J, Araújo II, Anderson TM, Vilhjálmsson BJ, Nordborg M, Correia E Silva A, Shriver MD, Rocha J, Barsh GS, Tang H.

PLoS Genet. 2013 Mar;9(3):e1003372. doi: 10.1371/journal.pgen.1003372. Epub 2013 Mar 21.

PMID:
23555287
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Adult siblings with homozygous G6PC3 mutations expand our understanding of the severe congenital neutropenia type 4 (SCN4) phenotype.

Fernandez BA, Green JS, Bursey F, Barrett B, MacMillan A, McColl S, Fernandez S, Rahman P, Mahoney K, Pereira SL, Scherer SW, Boycott KM, Woods MO; FORGE Canada Consortium.

BMC Med Genet. 2012 Nov 21;13:111. doi: 10.1186/1471-2350-13-111.

PMID:
23171239
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

[Use of botulinum toxin in a patient with pendular congenital nystagmus].

Hernández-García E, Gómez-De-Liaño-Sánchez R.

Arch Soc Esp Oftalmol. 2012 Oct;87(10):330-2. doi: 10.1016/j.oftal.2012.01.005. Epub 2012 Apr 5. Spanish.

PMID:
23021231
[PubMed - indexed for MEDLINE]
Free Article
18.

[Optical coherence tomography in patients with foveal hypoplasia and high visual acuity].

Shpak AA, Aznaurian IÉ, Balasanian VO, Tavtilova DA.

Vestn Oftalmol. 2012 Jul-Aug;128(4):66-9. Russian.

PMID:
22994112
[PubMed - indexed for MEDLINE]
19.

Incidental finding of alpha-methylacyl-CoA racemase deficiency in a patient with oculocutaneous albinism type 4.

Verhagen JM, Huijmans JG, Williams M, van Ruyven RL, Bergen AA, Wouters CH, Brooks AS.

Am J Med Genet A. 2012 Nov;158A(11):2931-4. doi: 10.1002/ajmg.a.35611. Epub 2012 Sep 17.

PMID:
22987308
[PubMed - indexed for MEDLINE]
20.

[Early prenatal genetic diagnosis of oculocutaneous albinism type I in seven families].

Wu Q, Shi HR, Liu N, Lu N, Jiang M, Zhao ZH, Kong XD.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2012 Aug;29(4):377-81. doi: 10.3760/cma.j.issn.1003-9406.2012.04.001. Chinese.

PMID:
22875490
[PubMed - indexed for MEDLINE]

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