檢索結果 - SCHRANDER-STUMPEL, C

MASA syndrome: new clinical features and linkage analysis using DNA probes. 由 Schrander-Stumpel, C, Legius, E, Fryns, J P, Cassiman, J J

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Two sibs with an unusual pattern of skeletal malformations resembling osteogenesis imperfecta: a new type of skeletal dysplasia? 由 Moog, U, Maroteaux, P, Schrander-Stumpel, C, van Ooij, A, Schrander, J, Fryns, J

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PTPN11 mutations in LEOPARD syndrome 由 Legius, E, Schrander-Stumpel, C, Schollen, E, Pulles-Heintzberg..., C, Gewillig, M, Fryns, J

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MASA syndrome (a form of complicated spastic paraplegia) and X linked hydrocephalus: variable expression of the same mutation at Xq28? Call for families. 由 Schrander-Stumpel, C, Fryns, J, Cassiman, J J, Legius, E, Spaepen, A, Höweler, C J

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Breakpoint mapping by FISH in a Sotos patient with a constitutional translocation t(3;6) 由 KOK, K, MOSSELAAR, A, FABER, H, DIJKHUIZEN, T, DRAAIJERS, T, VAN DER VEEN, A Y, BUYS, C, SCHRANDER-STUMPEL, C

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Arthrogryposis, ophthalmoplegia, and retinopathy: confirmation of a new type of arthrogryposis. 由 Schrander-Stumpel, C T, Höweler, C J, Reekers, A D, De Smet, N M, Hall, J G, Fryns, J P

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PAX genes and human neural tube defects: an amino acid substitution in PAX1 in a patient with spina bifida. 由 Hol, F A, Geurds, M P, Chatkupt, S, Shugart, Y Y, Balling, R, Schrander-Stumpel, C T, Johnson, W G, Hamel, B C, Mariman, E C

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Familial cylindromatosis mimicking tuberous sclerosis complex and confirmation of the cylindromatosis locus, CYLD1, in a large family. 由 Verhoef, S, Schrander-Stumpel, C T, Vuzevski, V D, Tempelaars, A, Jansen, L A, Malfeyt, G A, Ceelen, T L, Lindhout, D, Halley, D J, van den Ouweland, A M

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Oculoauriculovertebral spectrum and cerebral anomalies. 由 Schrander-Stumpel, C T, de Die-Smulders, C E, Hennekam, R C, Fryns, J P, Bouckaert, P X, Brouwer, O F, da Costa, J J, Lommen, E J, Maaswinkel-Mooy, P D

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Ehlers-Danlos Arthrochalasia type (VIIA-B) – expanding the phenotype: from prenatal life through adulthood 由 Klaassens, M., Reinstein, E., Hilhorst-Hofstee, Y., Schrander, J.J.P., Malfait, F., Staal, H., ten Have, L.C., Blaauw, J., Roggeveen, H.C.J., Krakow, D., De Paepe, A., van Steensel, M.A.M., Pals, G., Graham, J. M., Schrander-Stumpel, C.T.R.M.

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Chromosomal copy number changes in patients with non‐syndromic X linked mental retardation detected by array CGH 由 Lugtenberg, D, de Brouwer, A P M, Kleefstra, T, Oudakker, A R, Frints, S G M, Schrander‐Stumpel, C T R M, Fryns, J P, Jensen, L R, Chelly, J, Moraine, C, Turner, G, Veltman, J A, Hamel, B C J, de Vries, B B A, van Bokhoven, H, Yntema, H G

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Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis. 由 Buiting, K, Dittrich, B, Gross, S, Lich, C, Färber, C, Buchholz, T, Smith, E, Reis, A, Bürger, J, Nöthen, M M, Barth-Witte, U, Janssen, B, Abeliovich, D, Lerer, I, van den Ouweland, A M, Halley, D J, Schrander-Stumpel, C, Smeets, H, Meinecke, P, Malcolm, S, Gardner, A, Lalande, M, Nicholls, R D, Friend, K, Schulze, A, Matthijs, G, Kokkonen, H, Hilbert, P, Van Maldergem, L, Glover, G, Carbonell, P, Willems, P, Gillessen-Kaesbach, G, Horsthemke, B

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Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function 由 Lacbawan, F, Solomon, B D, Roessler, E, El-Jaick, K, Domené, S, Vélez, J I, Zhou, N, Hadley, D, Balog, J Z, Long, R, Fryer, A, Smith, W, Omar, S, McLean, S D, Clarkson, K, Lichty, A, Clegg, N J, Delgado, M R, Levey, E, Stashinko, E, Potocki, L, VanAllen, M I, Clayton-Smith, J, Donnai, D, Bianchi, D W, Juliusson, P B, Njølstad, P R, Brunner, H G, Carey, J C, Hehr, U, Müsebeck, J, Wieacker, P F, Postra, A, Hennekam, R C M, van den Boogaard, M-J H, van Haeringen, A, Paulussen, A, Herbergs, J, Schrander-Stumpel, C T R M, Janecke, A R, Chitayat, D, Hahn, J, McDonald-McGinn, D M, Zackai, E H, Dobyns, W B, Muenke, M

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