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Select item 83317461.

Partial albinism with immunodeficiency: a rare syndrome with prominent posterior fossa white matter changes.

J Brismar, H A Harfi

AJNR Am J Neuroradiol. 1992 Jan-Feb; 13(1): 387-93.

PMCID:: PMC8331746

Summary PDF–3.1M

Select item 68511422.

Clinical and genetic variability in children with partial albinism

Patrick Campbell, Jamie M. Ellingford, Neil R. A. Parry, Tracy Fletcher, Simon C. Ramsden, Theodora Gale, Georgina Hall, Katherine Smith, Dalia Kasperaviciute, Ellen Thomas, I. Chris Lloyd, Sofia Douzgou, Jill Clayton-Smith, Susmito Biswas, Jane L. Ashworth, Graeme C. M. Black, Panagiotis I. Sergouniotis

Sci Rep. 2019; 9: 16576. Published online 2019 Nov 12. doi: 10.1038/s41598-019-51768-8

PMCID:: PMC6851142

Abstract Article PDF–4.7M

Select item 61608433.

First report of partial albinism in the blue lobster Panulirus inflatus (Bouvier, 1895) from the Mexican Pacific ( Crustacea, Decapoda, Palinuridae)

Victor Landa-Jaime, Bernabé Aguilar-Palomino, Jesús Emilio Michel-Morfín, Mirella Saucedo Lozano

Zookeys. 2018; (784): 1–6. Published online 2018 Sep 12. doi: 10.3897/zookeys.784.25082

PMCID:: PMC6160843

Abstract Article PDF–368K

Select item 83867614.

GWAS Identifies a Region Containing the SALL1 Gene in Variation of Pigmentation Intensity Within the Chestnut Coat Color of Horses

Vada Hammons, Leticia Ribeiro, Kylie Munyard, Raheleh Sadeghi, Donald Miller, Douglas Antczak, Samantha A Brooks

J Hered. 2021 Jul; 112(5): 443–446. Published online 2021 Aug 3. doi: 10.1093/jhered/esab037

PMCID:: PMC8386761

Abstract Article PDF–7.6M

Select item 81679595.

Successful rescue of a lethal Griscelli syndrome type 2 presenting with neurological involvement and hemophagocytic lymphohistiocytosis: a case report

Qing Zhang, Yun-Ze Zhao, Hong-Hao Ma, Dong Wang, Nan Zhang, Zhi-Gang Li, Rui Zhang

BMC Pediatr. 2021; 21: 253. Published online 2021 May 31. doi: 10.1186/s12887-021-02720-1

PMCID:: PMC8167959

Abstract Article PDF–885K

Select item 77582166.

Griscelli Syndrome Type 2 Sine Albinism: Unraveling Differential RAB27A Effector Engagement

Yuta Ohishi, Sandra Ammann, Vahid Ziaee, Katharina Strege, Miriam Groß, Carla Vazquez Amos, Mohammad Shahrooei, Parisa Ashournia, Anahita Razaghian, Gillian M. Griffiths, Stephan Ehl, Mitsunori Fukuda, Nima Parvaneh

Front Immunol. 2020; 11: 612977. Published online 2020 Dec 10. doi: 10.3389/fimmu.2020.612977

PMCID:: PMC7758216

Abstract Article PDF–4.9M

Select item 63459447.

A pathogenic haplotype, common in Europeans, causes autosomal recessive albinism and uncovers missing heritability in OCA1

Karen Grønskov, Cathrine Jespersgaard, Gitte Hoffmann Bruun, Pernille Harris, Karen Brøndum-Nielsen, Brage S. Andresen, Thomas Rosenberg

Sci Rep. 2019; 9: 645. Published online 2019 Jan 24. doi: 10.1038/s41598-018-37272-5

PMCID:: PMC6345944

Abstract Article PDF–1.0M

Select item 29224398.

Novel 47.5-kb deletion in RAB27A results in severe Griscelli Syndrome type 2

Lisa M. Vincent, Fred Gilbert, Jennifer I. DiPace, Carla Ciccone, Thomas C. Markello, Andrew Jeong, Heidi Dorward, Wendy Westbroek, William A. Gahl, James B. Bussel, Marjan Huizing

Mol Genet Metab. Author manuscript; available in PMC 2011 Sep 1.

Published in final edited form as: Mol Genet Metab. 2010 Sep; 101(1): 62–65. Published online 2010 Jun 10. doi: 10.1016/j.ymgme.2010.05.015

PMCID:: PMC2922439

Abstract Article PDF–803K

Select item 21957889.

Rab27a: A Key to Melanosome Transport in Human Melanocytes

Philippe Bahadoran, Edith Aberdam, Frédéric Mantoux, Roser Buscà, Karine Bille, Nevin Yalman, Geneviève de Saint-Basile, Ricardo Casaroli-Marano, Jean-Paul Ortonne, Robert Ballotti

J Cell Biol. 2001 Feb 19; 152(4): 843–850. doi: 10.1083/jcb.152.4.843

PMCID:: PMC2195788

Abstract Article PDF–448K

Select item 180143910.

Homozygosity for Waardenburg syndrome.

J Zlotogora, I Lerer, S Bar-David, Z Ergaz, D Abeliovich

Am J Hum Genet. 1995 May; 56(5): 1173–1178.

PMCID:: PMC1801439

Summary Page Browse PDF–1.2M

Select item 54642611.

Rab27a mediates the tight docking of insulin granules onto the plasma membrane during glucose stimulation

Kazuo Kasai, Mica Ohara-Imaizumi, Noriko Takahashi, Shin Mizutani, Shengli Zhao, Toshiteru Kikuta, Haruo Kasai, Shinya Nagamatsu, Hiroshi Gomi, Tetsuro Izumi

J Clin Invest. 2005 Feb 1; 115(2): 388–396. doi: 10.1172/JCI22955

PMCID:: PMC546426

Abstract Article PDF–798K

Select item 37917312.

Evidence that Griscelli Syndrome with Neurological Involvement Is Caused by Mutations in RAB27A, Not MYO5A

Yair Anikster, Marjan Huizing, Paul D. Anderson, Diana L. Fitzpatrick, Aharon Klar, Eva Gross-Kieselstein, Yackov Berkun, Gila Shazberg, William A. Gahl, Haggit Hurvitz

Am J Hum Genet. 2002 Aug; 71(2): 407–414. Published online 2002 Jun 7. doi: 10.1086/341606

Correction in:: Am J Hum Genet. 2002 Oct; 71(4): 1007.

PMCID:: PMC379173

Abstract Article PDF–395K

Select item 2908213.

Chromosomal mapping, gene structure and characterization of the human and murine RAB27B gene

José S Ramalho, Tanya Tolmachova, Alistair N Hume, Amanda McGuigan, Cheryl Y Gregory-Evans, Clare Huxley, Miguel C Seabra

BMC Genet. 2001; 2: 2. Published online 2001 Feb 2. doi: 10.1186/1471-2156-2-2

PMCID:: PMC29082

Abstract Article PDF–1.9M

Select item 872388114.

Late Endocrine Effects after Stem Cell Transplant in a Young Girl with Griscelli Syndrome

Shana R. Mencher, William V. Tamborlane, Anisha D. Patel

Case Rep Pediatr. 2021; 2021: 9981306. Published online 2021 Dec 27. doi: 10.1155/2021/9981306

PMCID:: PMC8723881

Abstract Article PDF–450K

Select item 525811015.

Diagnostic approach to the congenital muscular dystrophies

Carsten G. Bönnemann, Ching H. Wang, Susana Quijano-Roy, Nicolas Deconinck, Enrico Bertini, Ana Ferreiro, Francesco Muntoni, Caroline Sewry, Christophe Béroud, Katherine D. Mathews, Steven A. Moore, Jonathan Bellini, Anne Rutkowski, Kathryn N. North

Neuromuscul Disord. Author manuscript; available in PMC 2017 Jan 23.

Published in final edited form as: Neuromuscul Disord. 2014 Apr; 24(4): 289–311. Published online 2014 Jan 9. doi: 10.1016/j.nmd.2013.12.011