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Literature DB >> 2918540

Stickler's syndrome.

I K Temple¹.

Abstract

Entities: Disease

Mesh：

Year: 1989 PMID： 2918540 PMCID： PMC1015563 DOI： 10.1136/jmg.26.2.119

Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318

× No keyword cloud information.

20 in total

1. HEREDITARY PROGRESSIVE ARTHRO-OPHTHALMOPATHY.

Authors: G B STICKLER; P G BELAU; F J FARRELL; J D JONES; D G PUGH; A G STEINBERG; L E WARD
Journal: Mayo Clin Proc Date: 1965-06 Impact factor: 7.616

2. [Differential diagnosis between dysostosis enchondralis and chondrodystrophy].

Authors: W KNIEST
Journal: Z Kinderheilkd Date: 1952

3. A bone dysplasia with deafness.

Authors: J Insley; R Astley
Journal: Br J Radiol Date: 1974-05 Impact factor: 3.039

4. The Marshall syndrome: report of a new family.

Authors: H Zellweger; J K Smith; P Grützner
Journal: J Pediatr Date: 1974-06 Impact factor: 4.406

5. A dominantly inherited syndrome of hyaloideoretinal degeneration, cleft palate and maxillary hypoplasia (Cervenka syndrome).

Authors: M M Cohen; W H Knobloch; R J Gorlin
Journal: Birth Defects Orig Artic Ser Date: 1971-06

6. The Wagner-Stickler syndrome-a genetic study.

Authors: R M Liberfarb; T Hirose; L B Holmes
Journal: Birth Defects Orig Artic Ser Date: 1979

7. Stickler syndrome. Presenting as a syndrome of cleft palate, myopia and blindness inherited as a dominant trait.

Authors: J Hall
Journal: Birth Defects Orig Artic Ser Date: 1974

8. The Stickler syndrome.

Authors: J M Opitz; T France; J Herrmann; J W Spranger
Journal: N Engl J Med Date: 1972-03-09 Impact factor: 91.245

9. The Weissenbacher-Zweymüller syndrome: possible neonatal expression of the Stickler syndrome.

Authors: T E Kelly; H H Wells; K B Tuck
Journal: Am J Med Genet Date: 1982-01

10. Prevalence of mitral-valve prolapse in the Stickler syndrome.

Authors: R M Liberfarb; A Goldblatt
Journal: Am J Med Genet Date: 1986-07

18 in total

1. Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes.

Authors: S Annunen; J Körkkö; M Czarny; M L Warman; H G Brunner; H Kääriäinen; J B Mulliken; L Tranebjaerg; D G Brooks; G F Cox; J R Cruysberg; M A Curtis; S L Davenport; C A Friedrich; I Kaitila; M R Krawczynski; A Latos-Bielenska; S Mukai; B R Olsen; N Shinno; M Somer; M Vikkula; J Zlotogora; D J Prockop; L Ala-Kokko
Journal: Am J Hum Genet Date: 1999-10 Impact factor: 11.025

10. Mutation in type II procollagen (COL2A1) that substitutes aspartate for glycine alpha 1-67 and that causes cataracts and retinal detachment: evidence for molecular heterogeneity in the Wagner syndrome and the Stickler syndrome (arthro-ophthalmopathy)

Authors: J Körkkö; P Ritvaniemi; L Haataja; H Kääriäinen; K I Kivirikko; D J Prockop; L Ala-Kokko
Journal: Am J Hum Genet Date: 1993-07 Impact factor: 11.025

Stickler's syndrome.

1. HEREDITARY PROGRESSIVE ARTHRO-OPHTHALMOPATHY.

2. [Differential diagnosis between dysostosis enchondralis and chondrodystrophy].

3. A bone dysplasia with deafness.

4. The Marshall syndrome: report of a new family.

5. A dominantly inherited syndrome of hyaloideoretinal degeneration, cleft palate and maxillary hypoplasia (Cervenka syndrome).

6. The Wagner-Stickler syndrome-a genetic study.

7. Stickler syndrome. Presenting as a syndrome of cleft palate, myopia and blindness inherited as a dominant trait.

8. The Stickler syndrome.

9. The Weissenbacher-Zweymüller syndrome: possible neonatal expression of the Stickler syndrome.

10. Prevalence of mitral-valve prolapse in the Stickler syndrome.

1. Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes.

Review 2. The p63 gene in EEC and other syndromes.

3. Unusual occurrence of cervical myelopathy in a case of Stickler's syndrome.

4. Amplification of the COL2A1 3' variable region used for segregation analysis in a family with the Stickler syndrome.

5. Genetic linkage analysis of hereditary arthro-ophthalmopathy (Stickler syndrome) and the type II procollagen gene.

Review 6. Syndromes of the first and second branchial arches, part 2: syndromes.

Review 7. Clinical and Molecular genetics of Stickler syndrome.

Review 8. Velocardiofacial (Shprintzen) syndrome: an important syndrome for the dysmorphologist to recognise.

9. Hereditary vitreoretinal dystrophy associated with peripheral neuropathy.

10. Mutation in type II procollagen (COL2A1) that substitutes aspartate for glycine alpha 1-67 and that causes cataracts and retinal detachment: evidence for molecular heterogeneity in the Wagner syndrome and the Stickler syndrome (arthro-ophthalmopathy)