Search Results - "Cobben, J.M."

Classification of Osteogenesis Imperfecta revisited by Van Dijk, F.S, Pals, G, Van Rijn, R.R, Nikkels, P.G.J, Cobben, J.M

“…Abstract In 1979 Sillence proposed a classification of Osteogenesis Imperfecta (OI) in OI types I, II, III and IV. In 2004 and 2007 this classification was…”
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NGS panel analysis in 24 ectopia lentis patients; a clinically relevant test with a high diagnostic yield by Overwater, E, Floor, K, van Beek, D, de Boer, K, van Dijk, T, Hilhorst-Hofstee, Y, Hoogeboom, A.J.M, van Kaam, K.J, van de Kamp, J.M, Kempers, M, Krapels, I.P.C, Kroes, H.Y, Loeys, B, Salemink, S, Stumpel, C.T.R.M, Verhoeven, V.J.M, Wijnands-van den Berg, E, Cobben, J.M, van Tintelen, J.P, Weiss, M.M, Houweling, A.C, Maugeri, A

“…Abstract Background Several genetic causes of ectopia lentis (EL), with or without systemic features, are known. The differentiation between syndromic and…”
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A de novo mutation in ZMYND11 , a candidate gene for 10p15.3 deletion syndrome, is associated with syndromic intellectual disability by Cobben, J.M, Weiss, M.M, van Dijk, F.S, De Reuver, R, de Kruiff, C, Pondaag, W, Hennekam, R.C, Yntema, H.G

“…Abstract We report a boy with severe syndromic intellectual disability who has a de novo mutation in the ZMYND11 gene. Arguments for pathogenicity of this…”
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P628: Electrophysiological data of DSMA1 patients in the Netherlands by Stalpers, X, Verrips, A, Poll-The, B.-T, Cobben, J.M, Snoeck, I, de Coo, I, Brooks, A, Bulk, S, Gooskens, R, Fock, A

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Survival in SMA type I: A prospective analysis of 34 consecutive cases by Cobben, J.M, Lemmink, H.H, Snoeck, I, Barth, P.A, van der Lee, J.H, de Visser, M

“…Abstract Thirty-four children with genetically proven SMA type I (age at onset <6 months, unable to sit during study period) were included in a 3-year…”
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PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy by van der Steege, G, Grootscholten, P M, van der Vlies, P, Draaijers, T G, Osinga, J, Cobben, J M, Scheffer, H, Buys, C H

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Homozygous deletion of the survival motor neuron 2 gene is a prognostic factor in sporadic ALS by VELDINK, J. H, VAN DEN BERG, L. H, COBBEN, J. M, STULP, R. P, DE JONG, J. M. B. V, VOGELS, O. J, BAAS, F, WOKKE, J. H. J, SCHEFFER, H

“…Spinal muscular atrophy (SMA) results from mutations of the survival motor neuron (SMN) gene on chromosome 5. The SMN gene exists in two highly homologous…”
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Compound-heterozygous Marfan syndrome by Van Dijk, F.S, Hamel, B.C, Hilhorst-Hofstee, Y, Mulder, B.J.M, Timmermans, J, Pals, G, Cobben, J.M

“…Abstract We report two families in which the probands have compound-heterozygous Marfan syndrome (MFS). The proband of family 1 has the R2726W FBN1 mutation…”
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Solitary median maxillary central incisor and congenital nasal pyriform aperture stenosis combined with asymmetric crying facies and postaxial lower limb reduction defects: A unique combination of features by Van Dijk, F.S, van Thuijl, H.F, Wermeskerken, A, van Rijn, R.R, Cobben, J.M

“…Abstract We report a boy with asymmetric crying facies and bilateral absence of the 5th ray of the feet. In addition, craniofacial computed tomography showed a…”
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SMN gene deletion in variant of infantile spinal muscular atrophy by Bürglen, L, Spiegel, R, Ignatius, J, Cobben, J M, Landrieu, P, Lefebvre, S, Munnich, A, Melki, J

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Novel KCNQ1 and HERG missense mutations in Dutch long-QT families by Jongbloed, R.J.E., Wilde, A.A.M., Geelen, J.L.M.C., Doevendans, P., Schaap, C., Van Langen, I., van Tintelen, J.P., Cobben, J.M., Beaufort-Krol, G.C.M., Geraedts, J.P.M., Smeets, H.J.M.

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Osteogenesis Imperfecta: A Review with Clinical Examples by van Dijk, F.S., Cobben, J.M., Kariminejad, A., Maugeri, A., Nikkels, P.G.J., van Rijn, R.R., Pals, G.

“…Osteogenesis imperfecta (OI) is characterized by susceptibility to bone fractures, with a severity ranging from subtle increase in fracture frequency to…”
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Array CGH on unstimulated blood does not detect all cases of Pallister-Killian syndrome: Buccal smear analysis should remain the diagnostic procedure of first choice by Cobben, J.M., Engelen, M., Polstra, A.

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A novel homozygous 5bp deletion in FKBP10 causes clinically Bruck syndrome in an Indonesian patient by Setijowati, E.D., van Dijk, F.S., Cobben, J.M., van Rijn, R.R., Sistermans, E.A., Faradz, S.M.H., Kawiyana, S., Pals, G.

“…We report an Indonesian patient with bone fragility and congenital joint contractures. The initial diagnosis was Osteogenesis Imperfecta type III (OI type III)…”
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A novel homozygous 5 bp deletion in FKBP10 causes clinically Bruck syndrome in an Indonesian patient by Setijowati, E.D, van Dijk, F.S, Cobben, J.M, van Rijn, R.R, Sistermans, E.A, Faradz, S.M.H, Kawiyana, S, Pals, G

“…Abstract We report an Indonesian patient with bone fragility and congenital joint contractures. The initial diagnosis was Osteogenesis Imperfecta type III (OI…”
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Novel KCNQ1 and HERG missense mutations in Dutch long‐QT families by Jongbloed, R.J.E., Wilde, A.A.M., Geelen, J.L.M.C., Doevendans, P., Schaap, C., Van Langen, I., van Tintelen, J.P., Cobben, J.M., Beaufort‐Krol, G.C.M., Geraedts, J.P.M., Smeets, H.J.M.

“…Congenital long QT syndrome (cLQTS) is electrocardiographically characterized by a prolonged QT interval and polymorphic ventricular arrhythmias (torsade de…”
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O-144. Development of preimplantation genetic diagnosis of spinal muscular atrophy by Dreesen, J.C.F.M., Bras, M., Smeets, H.J.M., Cobben, J.M., de Die-Smulders, C., Dumoulin, J.C.M., Evers, J.L.H., Geraedts, J.P.M.

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First trimester diagnosis of split hand/foot by transvaginal ultrasound by Haak, M C, Cobben, J M, van Vugt, J M

“…First trimester high-frequency transvaginal ultrasonographic examination was performed in a 26-year-old gravida 2, para 1, diagnosed with tetramelic split…”
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On the many faces of Leber hereditary optic neuropathy by Oostra, R.J., Tijmes, N.T., Cobben, J.M., Boihuis, P.A., van Nesselrooij, B.P.M., Houtman, W.A., de Kok-Nazaruk, M.M., Bleeker-Wagemakers, E.M.

“…Leber hereditary optic neuropathy (LHON) is a maternally inherited disorder, associated with mutations in the mitochondrial DNA, which is notorious for its…”
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Identification of key recombinants in multiplex SMA families by van der Steege, G, Cobben, J M, Brahe, C, Osinga, J, Zappata, S, Scheffer, H, Neri, G, van Ommen, G J, ten Kate, L P, Buys, C H

“…Recent reports have provided evidence that a major gene for autosomal recessive proximal spinal muscular atrophy (SMA) resides in a small genetic interval in…”
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