Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1965 1
1974 1
1993 1
1996 1
1997 1
1998 1
1999 2
2001 1
2004 2
2005 1
2006 1
2007 2
2010 1
2013 1
2019 1
2020 1
2024 0

Text availability

Article attribute

Article type

Publication date

PubMed (OMIM) for id: 22930

19 results

Results by year

Filters applied: . Clear all
Page 1
Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome.
Handley MT, Morris-Rosendahl DJ, Brown S, Macdonald F, Hardy C, Bem D, Carpanini SM, Borck G, Martorell L, Izzi C, Faravelli F, Accorsi P, Pinelli L, Basel-Vanagaite L, Peretz G, Abdel-Salam GM, Zaki MS, Jansen A, Mowat D, Glass I, Stewart H, Mancini G, Lederer D, Roscioli T, Giuliano F, Plomp AS, Rolfs A, Graham JM, Seemanova E, Poo P, García-Cazorla A, Edery P, Jackson IJ, Maher ER, Aligianis IA. Handley MT, et al. Hum Mutat. 2013 May;34(5):686-96. doi: 10.1002/humu.22296. Hum Mutat. 2013. PMID: 23420520
New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish.
Morris-Rosendahl DJ, Segel R, Born AP, Conrad C, Loeys B, Brooks SS, Müller L, Zeschnigk C, Botti C, Rabinowitz R, Uyanik G, Crocq MA, Kraus U, Degen I, Faes F. Morris-Rosendahl DJ, et al. Eur J Hum Genet. 2010 Oct;18(10):1100-6. doi: 10.1038/ejhg.2010.79. Epub 2010 May 26. Eur J Hum Genet. 2010. PMID: 20512159 Free PMC article.
Warburg Micro syndrome in a Turkish boy.
Yüksel A, Yesil G, Aras C, Seven M. Yüksel A, et al. Clin Dysmorphol. 2007 Apr;16(2):89-93. doi: 10.1097/MCD.0b013e328054c404. Clin Dysmorphol. 2007. PMID: 17351351
Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome.
Aligianis IA, Johnson CA, Gissen P, Chen D, Hampshire D, Hoffmann K, Maina EN, Morgan NV, Tee L, Morton J, Ainsworth JR, Horn D, Rosser E, Cole TR, Stolte-Dijkstra I, Fieggen K, Clayton-Smith J, Mégarbané A, Shield JP, Newbury-Ecob R, Dobyns WB, Graham JM Jr, Kjaer KW, Warburg M, Bond J, Trembath RC, Harris LW, Takai Y, Mundlos S, Tannahill D, Woods CG, Maher ER. Aligianis IA, et al. Nat Genet. 2005 Mar;37(3):221-3. doi: 10.1038/ng1517. Nat Genet. 2005. PMID: 15696165
MICRO syndrome: an entity distinct from COFS syndrome.
Graham JM Jr, Hennekam R, Dobyns WB, Roeder E, Busch D. Graham JM Jr, et al. Am J Med Genet A. 2004 Jul 30;128A(3):235-45. doi: 10.1002/ajmg.a.30060. Am J Med Genet A. 2004. PMID: 15216543 Review.
19 results