Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweym�ller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome)

Tero Pihlajamaa; Darwin J. Prockop; J�rg Faber; Andreas Winterpacht; Bernhard Zabel; Andres Giedion; Peter Wiesbauer; J�rgen Spranger; Leena Ala-Kokko

doi:10.1002/(sici)1096-8628(19981102)80:2<115::aid-ajmg5>3.0.co;2-o

Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweym�ller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome)

American Journal of Medical Genetics ◽

10.1002/(sici)1096-8628(19981102)80:2<115::aid-ajmg5>3.0.co;2-o ◽

1998 ◽

Vol 80 (2) ◽

pp. 115-120 ◽

Cited By ~ 56

Author(s):

Tero Pihlajamaa ◽

Darwin J. Prockop ◽

J�rg Faber ◽

Andreas Winterpacht ◽

Bernhard Zabel ◽

...

Keyword(s):

Stickler Syndrome ◽

Glycine Substitution ◽

Col11a2 Gene

Download Full-text

A Stickler syndrome gene is linked to chromosome 6 near the COL11A2 gene

Human Molecular Genetics ◽

10.1093/hmg/3.9.1561 ◽

1994 ◽

Vol 3 (9) ◽

pp. 1561-1564 ◽

Cited By ~ 76

Author(s):

Han G. Brunner ◽

Sylvia E.C. van Beersum ◽

Matt L. Warman ◽

Bjorn R. Olsen ◽

Hans-Hilger Ropers ◽

...

Keyword(s):

Chromosome 6 ◽

Stickler Syndrome ◽

Col11a2 Gene

Download Full-text

Anaesthetic management of a patient with myofibrillar myopathy and Stickler syndrome for scoliosis surgery

10.26226/morressier.57108e2ed462b80290b4a4ad ◽

2016 ◽

Author(s):

Karina Sifontes

Keyword(s):

Anaesthetic Management ◽

Scoliosis Surgery ◽

Stickler Syndrome ◽

Myofibrillar Myopathy

Download Full-text

Clinical and genetic characterization of autosomal recessive stickler syndrome caused by novel compound heterozygous mutations in the COL9A3 gene

Molecular Genetics & Genomic Medicine ◽

10.1002/mgg3.1620 ◽

2021 ◽

Author(s):

Tatiana Markova ◽

Peter Sparber ◽

Artem Borovikov ◽

Tatiana Nagornova ◽

Elena Dadali

Keyword(s):

Autosomal Recessive ◽

Genetic Characterization ◽

Compound Heterozygous ◽

Stickler Syndrome ◽

Compound Heterozygous Mutations

Download Full-text

Case Series of Stickler Syndrome Presenting with Acute Angle Closure

Journal of Glaucoma ◽

10.1097/ijg.0000000000001591 ◽

2020 ◽

Vol Publish Ahead of Print ◽

Author(s):

Alexander Walters ◽

Nathan Lambert ◽

Seth Bricel ◽

Thomas Hwang ◽

Eliesa Ing ◽

...

Keyword(s):

Case Series ◽

Acute Angle ◽

Angle Closure ◽

Stickler Syndrome ◽

Acute Angle Closure

Download Full-text

Stickler syndrome. Epidemiology of retinal detachment

Archivos de la Sociedad Española de Oftalmología (English Edition) ◽

10.1016/j.oftale.2015.06.004 ◽

2015 ◽

Vol 90 (6) ◽

pp. 264-268

Author(s):

F. Vilaplana ◽

S.J. Muiños ◽

J. Nadal ◽

J. Elizalde ◽

S. Mojal

Keyword(s):

Retinal Detachment ◽

Stickler Syndrome

Download Full-text

Compound Heterozygosity for a Recessive Glycine Substitution and a Splice Site Mutation in the COL7A1 Gene Causes an Unusually Mild Form of Localized Recessive Dystrophic Epidermolysis Bullosa

Journal of Investigative Dermatology ◽

10.1046/j.1523-1747.1998.00397.x ◽

1998 ◽

Vol 111 (5) ◽

pp. 744-750 ◽

Cited By ~ 30

Author(s):

Michela Terracina ◽

Patrizia Posteraro ◽

Giovanna Zambruno ◽

Daniele Castiglia ◽

Margit Schubert ◽

...

Keyword(s):

Splice Site ◽

Epidermolysis Bullosa ◽

Splice Site Mutation ◽

Compound Heterozygosity ◽

Mild Form ◽

Site Mutation ◽

Dystrophic Epidermolysis Bullosa ◽

Recessive Dystrophic Epidermolysis Bullosa ◽

Glycine Substitution ◽

Col7a1 Gene

Download Full-text

Glycine Substitution Mutations in the Type VII Collagen Gene (COL7A1) in Dystrophic Epidermolysis Bullosa: Implications for Genetic Counseling

Journal of Investigative Dermatology ◽

10.1111/1523-1747.ep12335324 ◽

1997 ◽

Vol 108 (2) ◽

pp. 224-228 ◽

Cited By ~ 37

Author(s):

Atsushi Kon ◽

John A. McGrath ◽

Leena Pulkkinen ◽

Kazuo Nomura ◽

Takehiko Nakamura ◽

...

Keyword(s):

Genetic Counseling ◽

Epidermolysis Bullosa ◽

Collagen Gene ◽

Dystrophic Epidermolysis Bullosa ◽

Type Vii Collagen ◽

Glycine Substitution ◽

Substitution Mutations

Download Full-text

Radiographic and Tomographic Analysis in Patients with Stickler Syndrome Type I

International Journal of Medical Sciences ◽

10.7150/ijms.4997 ◽

2013 ◽

Vol 10 (9) ◽

pp. 1250-1258 ◽

Cited By ~ 7

Author(s):

Ali Al Kaissi ◽

Farid Ben Chehida ◽

Rudolf Ganger ◽

Vladimir Kenis ◽

Shahin Zandieh ◽

...

Keyword(s):

Type I ◽

Syndrome Type ◽

Stickler Syndrome ◽

Tomographic Analysis

Download Full-text

Collagen XVII Is Destabilized by a Glycine Substitution Mutation in the Cell Adhesion Domain Col15

Journal of Biological Chemistry ◽

10.1074/jbc.275.5.3093 ◽

2000 ◽

Vol 275 (5) ◽

pp. 3093-3099 ◽

Cited By ~ 42

Author(s):

Kaisa Tasanen ◽

Johannes A. Eble ◽

Monique Aumailley ◽

Hauke Schumann ◽

Jens Baetge ◽

...

Keyword(s):

Cell Adhesion ◽

Collagen Xvii ◽

Glycine Substitution ◽

Substitution Mutation

Download Full-text

In This Issue: Glycine Substitution Mutations in the COL7A1 Gene: Implications for Inheritance of Dystrophic Epidermo- lysis Bullosa – Dominant vs. Recessive

Acta Dermato Venereologica ◽

10.2340/00015555-1131 ◽

2011 ◽

Vol 91 (3) ◽

pp. 259-261 ◽

Cited By ~ 2

Author(s):

J Uitto

Keyword(s):

Glycine Substitution ◽

Col7a1 Gene ◽

Substitution Mutations

Download Full-text