Search Results - "Hoogeboom, AJM"

Boston type craniosynostosis: Report of a second mutation in MSX2 by Florisson, Joyce M.G., Verkerk, Annemieke J.M.H., Huigh, Daphne, Hoogeboom, A. Jeannette M., Swagemakers, Sigrid, Kremer, Andreas, Heijsman, Daphne, Lequin, Maarten H., Mathijssen, Irene M.J., van der Spek, Peter J.

“…We describe a family that segregated an autosomal dominant form of craniosynostosis characterized by variable expression and limited extra‐cranial features…”
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The Origin of EFNB1 Mutations in Craniofrontonasal Syndrome: Frequent Somatic Mosaicism and Explanation of the Paucity of Carrier Males by Twigg, Stephen R.F., Matsumoto, Kazuya, Kidd, Alexa M.J., Goriely, Anne, Taylor, Indira B., Fisher, Richard B., Hoogeboom, A. Jeannette M., Mathijssen, Irene M.J., Lourenço, M. Teresa, Morton, Jenny E.V., Sweeney, Elizabeth, Wilson, Louise C., Brunner, Han G., Mulliken, John B., Wall, Steven A., Wilkie, Andrew O.M.

“…Craniofrontonasal syndrome (CFNS) is an X-linked disorder that exhibits a paradoxical sex reversal in phenotypic severity: females characteristically have…”
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Complex genetics of radial ray deficiencies: screening of a cohort of 54 patients by Vergult, Sarah, Hoogeboom, A. Jeannette M., Bijlsma, Emilia K., Sante, Tom, Klopocki, Eva, De Wilde, Bram, Jongmans, Marjolijn, Thiel, Christian, Verheij, Joke BGM, Perez-Aytes, Antonio, Van Esch, Hilde, Kuechler, Alma, Barge-Schaapveld, Daniela QCM, Sznajer, Yves, Mortier, Geert, Menten, Björn

“…Purpose: Radial ray deficiencies are characterized by unilateral or bilateral absence of varying portions of the radius and thumb. Both isolated and syndromic…”
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Early prenatal sonographic diagnosis and follow‐up of Jeune syndrome by Den Hollander, N. S., Robben, S. G. F., Hoogeboom, A. J. M., Niermeijer, M. F., Wladimiroff, J. W.

“…Jeune syndrome or asphyxiating thoracic dysplasia is an autosomal recessive osteochondrodysplasia. It is one of the six short‐rib (polydactyly) syndromes. The…”
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Early diagnosis of Wolf–Hirschhorn syndrome triggered by a life‐threatening event: Congenital diaphragmatic hernia by van Dooren, M.F., Brooks, A.S., Hoogeboom, A.J.M., van den Hoonaard, T.L., de Klein, J.E.M.M., Wouters, C.H., Tibboel, D.

“…Wolf–Hirschhorn syndrome (WHS, OMIM 194190) is a chromosomal disorder characterized by retarded mental and physical growth, microcephaly, Greek helmet…”
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Deletion of the TWIST gene in a large five-generation family by De Heer, IM, Hoogeboom, AJM, Eussen, HJ, Vaandrager, JM, De Klein, A

“…In this article, we describe a large five‐generation family with characteristics of the Saethre–Chotzen syndrome as well as of the blepharophimosis ptosis…”
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Prenatal diagnosis of type A1 brachydactyly by Den Hollander, N. S., Hoogeboom, A. J. M., Niermeijer, M. F., Wladimiroff, J. W.

“…Brachydactyly can occur as an isolated malformation or as part of numerous syndromes. Prenatal assessment of brachydactyly may be especially helpful in…”
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Linkage analysis with chromosome 15q11-13 markers shows genomic imprinting in familial Angelman syndrome by Meijers-Heijboer, E J, Sandkuijl, L A, Brunner, H G, Smeets, H J, Hoogeboom, A J, Deelen, W H, van Hemel, J O, Nelen, M R, Smeets, D F, Niermeijer, M F

“…Angelman syndrome (AS) and Prader-Willi syndrome (PWS) have become the classical examples of genomic imprinting in man, as completely different phenotypes are…”
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Pfeiffer's syndrome resulting from an S351C mutation in the fibroblast growth factor receptor-2 gene by Mathijssen, I M, Vaandrager, J M, Hoogeboom, A J, Hesseling-Janssen, A L, van den Ouweland, A M

“…For four of the most well-known craniosynostosis syndromes--Apert's, Crouzon's, Pfeiffer's, and Jackson-Weiss' syndromes--mutations in the fibroblast growth…”
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Linkage analysis in X-linked adrenoleukodystrophy and application in post- and prenatal diagnosis by VAN OOST, B. A, VAN ZANDVOORT, P. M, TÜNTE, W, BRUNNER, H. G, HOOGEBOOM, A. J. M, MAASWINKEL-MOOY, P. D, BAKKEREN, J, HAMEL, B, ROPERS, H. H

“…We have performed linkage analysis with the DNA markers DXS52 and the clotting factor VIII gene (F8C), in several large families with X-linked…”
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Clinical evidence for localisation of HLA proximal of chromosome 6p22 by Sachs, E S, Hoogeboom, A J, Niermeijer, M F, Schreuder, G M

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Interstitial del(13)(q21.3q31) associated with psychomotor retardation, eczema, and absent suck and swallowing reflex by Peet, P J, Pereira, R R, Van Hemel, J O, Hoogeboom, A J

“…A patient with a deletion (13)(q21.3q31) showed only eczema and absent suck and swallowing reflex, in contrast to other well documented cases with a similar…”
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The Aarskog syndrome in a large family, suggestive for autosomal dominant inheritance by van de Vooren, M J, Niermeijer, M F, Hoogeboom, A J

“…A large family in which the Aarskog syndrome is transmitted in three generations was studied. In affected males, a large variability of expression was…”
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Somatic cell hybridisation studies showing different gene mutations in Niemann-Pick variants by Besley, G T, Hoogeboom, A J, Hoogeveen, A, Kleijer, W J, Galjaard, H

“…Cultured skin fibroblasts from patients with different clinical types of Niemann-Pick disease were hybridized and sphingomyelinase activities were measured in…”
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Differences in complexity of isolated brachydactyly type C cannot be attributed to locus heterogeneity alone by Galjaard, R.J.H., van der Ham, L.I., Posch, N.A.S., Dijkstra, P.F., Oostra, B.A., Hovius, S.E.R., Timmenga, E.J.F., Sonneveld, G.J., Hoogeboom, A.J.M., Heutink, P.

“…Hereditary isolated brachydactyly type C (OMIM 113100) mostly follows an autosomal dominant pattern of inheritance with a marked variability in expression…”
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