Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 168

1.

The Sjögren-Larsson syndrome gene is close to D17S805 as determined by linkage analysis and allelic association.

Pigg M, Jagell S, Sillén A, Weissenbach J, Gustavson KH, Wadelius C.

Nat Genet. 1994 Dec;8(4):361-4. Erratum in: Nat Genet 1995 Apr;9(4):451.

PMID:
7894487
[PubMed - indexed for MEDLINE]
2.

Genetic homogeneity in Sjögren-Larsson syndrome: linkage to chromosome 17p in families of different non-Swedish ethnic origins.

Rogers GR, Rizzo WB, Zlotogorski A, Hashem N, Lee M, Compton JG, Bale SJ.

Am J Hum Genet. 1995 Nov;57(5):1123-9.

PMID:
7485163
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Further evidence of genetic homogeneity in Sjögren-Larsson syndrome.

Pigg M, Annton-Lamprecht I, Braun-Quentin C, Gustavson KH, Wadelius C.

Acta Derm Venereol. 1999 Jan;79(1):41-3.

PMID:
10086857
[PubMed - indexed for MEDLINE]
4.

Confirmation of linkage of Sjögren-Larsson syndrome to chromosome 17 in families of different ethnic origins.

Lacour M, Middleton-Price HR, Harper JI.

J Med Genet. 1996 Mar;33(3):258-9.

PMID:
8728707
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Detailed genetic and physical mapping in the Sjögren-Larsson syndrome gene region in 17p11.2.

Sillén A, Alderborn A, Pigg M, Jagell S, Wadelius C.

Hereditas. 1998;128(3):245-50.

PMID:
9760873
[PubMed - indexed for MEDLINE]
6.

Update on Sjögren-Larsson syndrome.

Lacour M.

Dermatology. 1996;193(2):77-82. Review.

PMID:
8884139
[PubMed - indexed for MEDLINE]
7.

A missense mutation in the FALDH gene identified in Sjögren-Larsson syndrome patients originating from the northern part of Sweden.

Sillén A, Jagell S, Wadelius C.

Hum Genet. 1997 Aug;100(2):201-3.

PMID:
9254849
[PubMed - indexed for MEDLINE]
8.

First prenatal diagnosis by mutation analysis in a family with Sjögren-Larsson syndrome.

Sillén A, Holmgren G, Wadelius C.

Prenat Diagn. 1997 Dec;17(12):1147-9.

PMID:
9467812
[PubMed - indexed for MEDLINE]
9.

RNA-based mutation screening in German families with Sjögren-Larsson syndrome.

Kraus C, Braun-Quentin C, Ballhausen WG, Pfeiffer RA.

Eur J Hum Genet. 2000 Apr;8(4):299-306.

PMID:
10854114
[PubMed - indexed for MEDLINE]
Free Article
10.

Spectrum of mutations and sequence variants in the FALDH gene in patients with Sjögren-Larsson syndrome.

Sillén A, Anton-Lamprecht I, Braun-Quentin C, Kraus CS, Sayli BS, Ayuso C, Jagell S, Küster W, Wadelius C.

Hum Mutat. 1998;12(6):377-84.

PMID:
9829906
[PubMed - indexed for MEDLINE]
11.

A very rare neurocutaneous disorder in 2 siblings: Sjögren-Larsson syndrome.

Caglayan AO, Gumus H.

J Child Neurol. 2010 Aug;25(8):1003-5. doi: 10.1177/0883073809348972. Epub 2010 Feb 8.

PMID:
20142464
[PubMed - indexed for MEDLINE]
12.

Sjögren-Larsson syndrome is caused by a common mutation in northern European and Swedish patients.

De Laurenzi V, Rogers GR, Tarcsa E, Carney G, Marekov L, Bale SJ, Compton JG, Markova N, Steinert PM, Rizzo WB.

J Invest Dermatol. 1997 Jul;109(1):79-83.

PMID:
9204959
[PubMed - indexed for MEDLINE]
13.

Sjögren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene.

De Laurenzi V, Rogers GR, Hamrock DJ, Marekov LN, Steinert PM, Compton JG, Markova N, Rizzo WB.

Nat Genet. 1996 Jan;12(1):52-7.

PMID:
8528251
[PubMed - indexed for MEDLINE]
14.

The molecular basis of Sjögren-Larsson syndrome: mutation analysis of the fatty aldehyde dehydrogenase gene.

Rizzo WB, Carney G, Lin Z.

Am J Hum Genet. 1999 Dec;65(6):1547-60.

PMID:
10577908
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

A gene for congenital, recessive deafness DFNB3 maps to the pericentromeric region of chromosome 17.

Friedman TB, Liang Y, Weber JL, Hinnant JT, Barber TD, Winata S, Arhya IN, Asher JH Jr.

Nat Genet. 1995 Jan;9(1):86-91.

PMID:
7704031
[PubMed - indexed for MEDLINE]
16.

Sjögren-Larsson syndrome: case reports.

Levisohn D, Dintiman B, Rizzo WB.

Pediatr Dermatol. 1991 Sep;8(3):217-20.

PMID:
1836061
[PubMed - indexed for MEDLINE]
17.

Sjögren-Larsson syndrome: case reports of two brothers.

Barnard NA, Patel C, Barnard RA.

Ophthalmic Physiol Opt. 1991 Apr;11(2):180-3.

PMID:
2062544
[PubMed - indexed for MEDLINE]
18.

Sjögren-Larsson syndrome: diversity of mutations and polymorphisms in the fatty aldehyde dehydrogenase gene (ALDH3A2).

Rizzo WB, Carney G.

Hum Mutat. 2005 Jul;26(1):1-10. Review.

PMID:
15931689
[PubMed - indexed for MEDLINE]
19.

A common deletion mutation in European patients with Sjögren-Larsson syndrome.

Rizzo WB, Carney G, De Laurenzi V.

Biochem Mol Med. 1997 Dec;62(2):178-81.

PMID:
9441870
[PubMed - indexed for MEDLINE]
20.

Precise genetic mapping and haplotype analysis of the familial dysautonomia gene on human chromosome 9q31.

Blumenfeld A, Slaugenhaupt SA, Liebert CB, Temper V, Maayan C, Gill S, Lucente DE, Idelson M, MacCormack K, Monahan MA, Mull J, Leyne M, Mendillo M, Schiripo T, Mishori E, Breakefield X, Axelrod FB, Gusella JF.

Am J Hum Genet. 1999 Apr;64(4):1110-8.

PMID:
10090896
[PubMed - indexed for MEDLINE]
Free PMC Article

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk