Development and validation of a severity scoring system for Zellweger spectrum disorders

Autor: F C C, Klouwer, A, Meester-Delver, F M, Vaz, H R, Waterham, R C M, Hennekam, B T, Poll-The

Publikováno v: Clinical Genetics. 93(3):613-621

The lack of a validated severity scoring system for individuals with Zellweger spectrum disorders (ZSD) hampers optimal patient care and reliable research. Here, we describe the development of such severity score and its validation in a large, well-c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::b0e20e42c12caffc20ac69ad296cfcec
https://doi.org/10.1111/cge.13130

Short-limbed dwarfism with bowing, combined immune deficiency, and late onset aplastic anaemia caused by novel mutations in the RMPR gene

Autor: R C M Hennekam, M Peters, M Ridanpää, I Kaitila, J M J J Vossen, I de Boer, S T Pals, Taco W. Kuijpers

Publikováno v: Journal of medical genetics, 40(10), 761-766. BMJ Publishing Group
Journal of Medical Genetics, 40, 761-766. BMJ Publishing Group

Kyphomelic dysplasia has been described as a generalised skeletal dysplasia characterised by a disproportionate growth, bowing of long bones, mild facial dysmorphia, and normal intelligence, with radiologically flattened vertebrae, short ribs, and me

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18b3504f6ec1e99e747c3e00ee25e994
https://hdl.handle.net/11245/1.214322

Some patients with intracranial aneurysms have a reduced type III/type I collagen ratio : a case-control study

Autor: Andries Westerveld, Martien Limburg, J.S.P. van den Berg, R. C. M. Hennekam, K. W. Albrecht, Gerard Pals, Fré Arwert

Publikováno v: Neurology, 49, 6, pp. 1546-1551
Neurology, 49, 1546-1551
Neurology, 49(6), 1546-1551. Lippincott Williams and Wilkins

A reduced production of type III collagen has been reported in previous studies to be associated with intracranial aneurysms. The purpose of this prospective case-control study was to assess the possible role of a reduced type III collagen production

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f8c9660e73437ddf0acdc9942c0cc4f
https://hdl.handle.net/2066/24902

A Malay boy with the Cornelia de Lange syndrome: clinical and molecular findings

Autor: Z A, Bhuiyan, B A, Zilfalil, R C M, Hennekam

Publikováno v: Singapore medical journal. 47(8)

The Cornelia de Lange syndrome is a multiple congenital anomaly syndrome characterised by dysmorphic facial features, hirsutism, severe growth and developmental delays, and malformed upper limbs. The prevalence is estimated to be one per 10,000. Rece

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::374666c1d669cb88b7a453da19b95804
https://pubmed.ncbi.nlm.nih.gov/16865217

Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith--Lemli--Opitz syndrome

Autor: P. E. JIRA, R. J. A. WANDERS, J. A. M. SMEITINK, J. JONG, R. A. WEVERS, W. OOSTHEIM, J. H. A. M. TUERLINGS, R. C. M. HENNEKAM, R. C. A. SENGERS, H. R. WATERHAM

Publikováno v: Annals of human genetics, 65(Part 3), 229-236. Wiley-Blackwell
Annals of Human Genetics, 65, Pt 3, pp. 229--36
Annals of Human Genetics, 65, 229--36

Item does not contain fulltext Smith--Lemli--Opitz syndrome (SLOS) is caused by mutations in the DHCR7 gene leading to deficient activity of 7-dehydrocholesterol reductase (DHCR7; EC 1.3.1.21), the final enzyme of the cholesterol biosynthetic pathway

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::68cf521b99e5269ceac5d7dcec78aec4
https://doi.org/10.1046/j.1469-1809.2001.6530229.x