Výsledky vyhledávání - "Marja Majava"

A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype-phenotype correlations in type XI collagenopathies

Autor: Michael B. Petersen, Deborah Bartholdi, George Kitsos, Marta Carrera, Geert Mortier, J M van Hagen, Irene Stolte-Dijkstra, Minna Männikkö, Leena Ala-Kokko, Katelijne Bouman, Jane A. Hurst, Dunja Niedrist, Mieke C. Bouma, Debbie Shears, Kristien Hoornaert, Koenraad Devriendt, Marja Majava

Publikováno v: American Journal of Medical Genetics. Part A, 143A(3), 258-264. Wiley

A series of 44 unrelated patients in whom COL2A1 screening demonstrated normal results but whose phenotype was nevertheless highly Suggestive of either Stickler syndrome (with ocular involvement) or Marshall syndrome were investigated for mutations i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8044459f98c3b68c45d98c9c14740186
https://doi.org/10.1002/ajmg.a.31586

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Mapping of a new autosomal recessive nonsyndromic hearing loss locus (DFNB32) to chromosome 1p13.3-22.1

Autor: Mark Lathrop, Hammadi Ayadi, Minna Männikkö, Christine Petit, Sébastien Chardenoux, Arnaud Lemainque, Mohamed Drira, Marja Majava, Abdelaziz Tlili, Dominique Weil, Saber Masmoudi, Leena Ala-Kokko, Jihene Moala, Zeineb Ben Zina, Abdel Monem Ghorbel

Publikováno v: European Journal of Human Genetics. 11:185-188

Approximately 80% of the hereditary hearing loss is nonsyndromic. Isolated deafness is the most genetically heterogeneous trait. We have ascertained 10 individuals from a large consanguineous Tunisian family with congenital profound autosomal recessi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00674a9434617b6b3d8829d1dd625f4d
https://doi.org/10.1038/sj.ejhg.5200934

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Missense and nonsense mutations in the alternatively-spliced exon 2 of COL2A1 cause the ocular variant of Stickler syndrome

Autor: Minna Männikkö, Leena Ala-Kokko, Graeme C.M. Black, Rahat Perveen, Paul N. Bishop, Audrey McAlinden, Marja Majava, Mary Ella M Pierpont

Publikováno v: Human mutation. 29(1)

Stickler syndrome type I (STL1) is a phenotypically heterogeneous disorder characterized by ocular and extraocular features. It is caused by null-allele mutations in the COL2A1 gene that codes for procollagen II. COL2A1 precursor mRNA undergoes alter

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b50e31e2abaaf4b7c1f10391975ec6e
https://pubmed.ncbi.nlm.nih.gov/17721977

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Novel mutations in the small leucine-rich repeat protein/proteoglycan (SLRP) genes in high myopia

Autor: Minna Männikkö, Marja Majava, Tim D. Spector, Pasi Hägg, Paul G. Scott, Leena Ala-Kokko, Aine Rice, Chris F. Inglehearn, Christopher J Hammond, Paul N. Bishop

Publikováno v: Human mutation. 28(4)

The importance of the genetic component in high myopia has been well established in population and family studies, but only a few candidate genes have been explored to date. The extracellular matrix small leucine-rich repeat proteins/proteoglycans (S

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::35a17e81bb817e0b0fb4c200e009c7e3
https://pubmed.ncbi.nlm.nih.gov/17117407

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