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Literature DB >> 14299791

HEREDITARY PROGRESSIVE ARTHRO-OPHTHALMOPATHY.

G B STICKLER, P G BELAU, F J FARRELL, J D JONES, D G PUGH, A G STEINBERG, L E WARD.

Abstract

Keywords: BIOCHEMISTRY; BLINDNESS; CATARACT; GENETICS, HUMAN; GLAUCOMA; JOINT DISEASES; KERATITIS; MYOPIA; PATHOLOGY; RADIOGRAPHY; RETINAL DETACHMENT; UVEITIS

Mesh：

Year: 1965 PMID： 14299791

Source DB: PubMed Journal: Mayo Clin Proc ISSN： 0025-6196 Impact factor: 7.616

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Cited

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98 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

2. Linkage study in a large pedigree with Stickler syndrome: exclusion of COL2A1 as the mutant gene.

Authors: J Bonaventure; C Philippe; G Plessis; J Vigneron; C Lasselin; P Maroteaux; S Gilgenkrantz
Journal: Hum Genet Date: 1992 Sep-Oct Impact factor: 4.132

3. Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients.

Authors: Kristien P Hoornaert; Inge Vereecke; Chantal Dewinter; Thomas Rosenberg; Frits A Beemer; Jules G Leroy; Laila Bendix; Erik Björck; Maryse Bonduelle; Odile Boute; Valerie Cormier-Daire; Christine De Die-Smulders; Anne Dieux-Coeslier; Hélène Dollfus; Mariet Elting; Andrew Green; Veronica I Guerci; Raoul C M Hennekam; Yvonne Hilhorts-Hofstee; Muriel Holder; Carel Hoyng; Kristi J Jones; Dragana Josifova; Ilkka Kaitila; Suzanne Kjaergaard; Yolande H Kroes; Kristina Lagerstedt; Melissa Lees; Martine Lemerrer; Cinzia Magnani; Carlo Marcelis; Loreto Martorell; Michèle Mathieu; Meriel McEntagart; Angela Mendicino; Jenny Morton; Gabrielli Orazio; Véronique Paquis; Orit Reish; Kalle O J Simola; Sarah F Smithson; Karen I Temple; Elisabeth Van Aken; Yolande Van Bever; Jenneke van den Ende; Johanna M Van Hagen; Leopoldo Zelante; Riina Zordania; Anne De Paepe; Bart P Leroy; Marc De Buyzere; Paul J Coucke; Geert R Mortier
Journal: Eur J Hum Genet Date: 2010-02-24 Impact factor: 4.246

8. Kniest dysplasia is caused by dominant collagen II (COL2A1) mutations: parental somatic mosaicism manifesting as Stickler phenotype and mild spondyloepiphyseal dysplasia.

Authors: J Spranger; H Menger; S Mundlos; A Winterpacht; B Zabel
Journal: Pediatr Radiol Date: 1994

Review 9. Autosomal recessive Stickler syndrome resulting from a COL9A3 mutation.

Authors: Andrea Hanson-Kahn; Bing Li; Daniel H Cohn; Deborah A Nickerson; Michael J Bamshad; Louanne Hudgins
Journal: Am J Med Genet A Date: 2018-11-18 Impact factor: 2.802

10. The risk of a new retinal break or detachment following cataract surgery in eyes that had undergone repair of phakic break or detachment: a hypothesis of a causal relationship to cataract surgery.

Authors: M Gilbert Grand
Journal: Trans Am Ophthalmol Soc Date: 2003

HEREDITARY PROGRESSIVE ARTHRO-OPHTHALMOPATHY.

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

2. Linkage study in a large pedigree with Stickler syndrome: exclusion of COL2A1 as the mutant gene.

3. Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients.

4. Spontaneous involution of autologous lenses and phacoanaphylaxis reaction in Stickler syndrome.

Review 5. Ophthalmic eponyms from the Mayo Clinic.

6. PCR assay confirms diagnosis in syndrome with variably expressed phenotype: mutation detection in Stickler syndrome.

7. Stickler's syndrome and neovascular glaucoma.

8. Kniest dysplasia is caused by dominant collagen II (COL2A1) mutations: parental somatic mosaicism manifesting as Stickler phenotype and mild spondyloepiphyseal dysplasia.

Review 9. Autosomal recessive Stickler syndrome resulting from a COL9A3 mutation.

10. The risk of a new retinal break or detachment following cataract surgery in eyes that had undergone repair of phakic break or detachment: a hypothesis of a causal relationship to cataract surgery.