Výsledky vyhledávání - "R. C. M. HENNEKAM"

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

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Dominantly inherited microcephaly, short stature and normal intelligence

Autor: R. C. M. Hennekam, A. Van Rhijn, F. A. M. Hennekam

Publikováno v: Clinical Genetics. 41:248-251

A large family is reported in which microcephaly and short stature is segregating as a probably autosomal dominantly inherited trait. Some affected members also show a delayed onset of puberty. No other clinical or radiological symptoms are present,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d48a61d1027b64cde89e7cbaee12efb1
https://doi.org/10.1111/j.1399-0004.1992.tb03675.x

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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

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Type III Collagen Deficiency in Saccular Intracranial Aneurysms

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

Publikováno v: Stroke; a journal of cerebral circulation, 30(8), 1628-1631. Lippincott Williams and Wilkins
Stroke, 30, 1628-1631
Stroke, 30, 8, pp. 1628-1631

Background and Purpose —We sought to determine whether there are mutations in the COL3A1 gene in patients with saccular intracranial aneurysms with a type III collagen deficiency and whether there is an association between a marker in the COL3A1 ge

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da479ad160aec94972a330e442af6f45
https://doi.org/10.1161/01.str.30.8.1628

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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

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Development and behaviour in Marshall-Smith syndrome: an exploratory study of cognition, phenotype and autism

Autor: I D C, van Balkom, A, Shaw, P J, Vuijk, M, Franssens, H W, Hoek, R C M, Hennekam

Publikováno v: Journal of intellectual disability research : JIDR. 55(10)

Marshall-Smith syndrome (MSS) is an infrequently described entity characterised by failure to thrive, developmental delay, abnormal bone maturation and a characteristic face. In studying the physical features of a group of patients, we noticed unusua

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::a85fbbde66125914a028148bd5955129
https://pubmed.ncbi.nlm.nih.gov/21790824

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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

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[Possible teratogenic effects of thiamazole]

Autor: H M, Ozgen, M H, Ozgen, W E, Reuvers-Lodewijks, R C M, Hennekam

Publikováno v: Nederlands tijdschrift voor geneeskunde. 150(2)

A newborn male presented with choanal atresia and minor dysmorphic facial features. At 4 years of age he showed delayed speech and language development. His mother had been treated with thiamazole for pre-existing hyperthyroidism during the first 3 m

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::fd4ef5b1def754540bc14e9bc46df749
https://pubmed.ncbi.nlm.nih.gov/16440566

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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

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Familial neurofibromatosis type 1 associated with an overgrowth syndrome resembling Weaver syndrome

Autor: R. C. M. Hennekam, W. C. G. Overweg-Plandsoen, D. A. Van Tijn, C. J. van Asperen, Marjon H. Cnossen

Publikováno v: Journal of medical genetics, 35(4), 323-327. BMJ Publishing Group

The simultaneous occurrence of familial neurofibromatosis type 1 (NF1) and an overgrowth syndrome resembling Weaver syndrome was observed in two related cases (a mother and her son). NF1 was confirmed by molecular genetic analysis showing a large del

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c83792f647cc09f82b0bf2f7abba56fb
https://europepmc.org/articles/PMC1051283/

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