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Cartilage hair hypoplasia, metaphyseal chondrodysplasia type McKusick: Description of seven patients and review of the literature

Autor: Jc Oosterwijk, [No Value] Vanderburgt, Ben C.J. Hamel, Corry M.R. Weemaes, Aj Vanessen, Ásgeir Haraldsson

Publikováno v: American Journal of Medical Genetics. 41:371-380

We describe 7 cases of cartilage hair hypoplasia (CHH) with emphasis on the clinical and immunological aspects. The literature on CHH is reviewed and symptoms in 63 non-Amish cases are summarized. In this autosomal recessive disorder the immunodefici

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0112af602ee2e4ded0a1e2a0cfbfbf2
https://doi.org/10.1002/ajmg.1320410320

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Cerebro-costo-mandibular syndrome

Autor: AP Bos, FB Plotz, AN Bosschaart, Aj Vanessen

Publikováno v: American journal of medical genetics. 62(3)

We describe two boys with the cerebro-costomandibular syndrome (CCMS). Both patients presented with Pierre Robin anomaly and respiratory insufficiency and died 12 hours and 10 months after birth. The first boy had muscular hypotonia, severe micrognat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56c40fd7798a64f2b257d7c8a7ae0a53
https://pubmed.ncbi.nlm.nih.gov/8882789

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ISOCHROMOSOME-18Q IN A GIRL WITH HOLOPROSENCEPHALY, DIGEORGE ANOMALY, AND STREAK OVARIES

Autor: Jham Tuerlings, Mje Mourits, B Leegte, Cjf Schoots, Ra Vanlingen, Aj Vanessen

Publikováno v: American Journal of Medical Genetics, 47(1), 85-88. WILEY-LISS

We report on the clinical and pathologic findings in a girl with isochromosome 18q (46, XX,i(18q)) who had combined manifestations of monosomy 18p and trisomy 18q. Major congenital anomalies included premaxillary agenesis, alobar holoprosenphaly, dou

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c25683a546c6b530b0b00dc07266695
https://research.rug.nl/en/publications/3559f8c5-e634-4005-8e3a-1475cb5f974f

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Duchenne muscular dystrophy inherited through paternal lines

Autor: Lp Tenkate, Aj Vanessen

Publikováno v: American Journal of Medical Genetics, 42(2), 214-214. WILEY-LISS

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::391c815fa8d3157d733f74fc7d4ff799
https://doi.org/10.1002/ajmg.1320420216

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Poland anomaly in mother and daughter

Autor: Aj Vanessen, Hl Vanderwiel, Lp Tenkate, P. H. Robinson, Jm Cobben

Publikováno v: American Journal of Medical Genetics, 33(4), 519-521. WILEY-LISS

We report on Poland anomaly in a mother and her daughter. Further family history was negative for abnormalities of the hands or the pectoralis major muscle. A review of published cases of familial Poland anomaly is presented. Implications concerning

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5cd23eb859e29a9945794a1db0454eb7
https://doi.org/10.1002/ajmg.1320330423

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PARTIAL 3Q DUPLICATION SYNDROME AND ASSIGNMENT OF D3S5 TO 3Q25-3Q28

Autor: B Dejong, F Stellink, Af Bos, Klaas Kok, Aj Vanessen, Chcm Buys, Anke van den Berg, Hans Scheffer

Publikováno v: University of Groningen
HUMAN GENETICS, 87(2), 151-154. SPRINGER

We report a girl with a de novo duplication of the distal part of the long arm of chromosome 3 and review the literature. Our patient had the facial characteristics and many other anomalies of the partial 3q duplication syndrome. As a hitherto undesc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::15055724f05ec3d7ce412e8299249566
https://research.rug.nl/en/publications/f6456a91-0086-4cae-8596-0832268a0ed6

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