Search Results - "Bijlsma, J B"

Interstitial deletion in 3q in a patient with blepharophimosis‐ptosis‐epicanthus inversus syndrome (BPES) and microcephaly, mild mental retardation and growth delay: Clinical report and review of the literature by de Ru, M.H., Gille, J.J.P., Nieuwint, A.W.M., Bijlsma, J.B., van der Blij, J.F., van Hagen, J.M.

“…We present a boy with blepharophimosis, ptosis, epicanthus inversus, microcephaly, mild mental retardation, and growth delay. Chromosomal analysis revealed a…”
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Virilization of the external genitalia and severe mental retardation in a girl with an unbalanced translocation 1;18 by de Pater, J.M., Poot, M., Beemer, F.A., Bijlsma, J.B., Hack, W.W.M., Van Dam, W.M., Eleveld, M.J., Loneus, W.H., Engelen, J.J.M.

“…A female infant with dysmorphic facial features, psychomotor retardation, and clitoris hypertrophy is described. Molecular cytogenetic analyses revealed a de…”
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Atelencephalic microcephaly : a case report and review of the literature by IPPEL, P. F, BRESLAU-SIDERIUS, E. J, HACK, W. W. M, VAN DER BLIJ, H. F, BOUVE, S, BIJLSMA, J. B

“…Atelencephalic microcephaly is a lethal form of abnormal cerebral development. In atelencephaly there is a rudimentary prosencephalon; in aprosencephaly, a…”
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Interstitial deletion 11q. Case report and review of the literature by De Pater, J M, Ippel, P F, Bijlsma, J B, Van Nieuwenhuizen, O

“…A mildly retarded male with a unique interstitial deletion 11 (pter-->q22.3::q23.2-->qter) is described. To the best of our knowledge this patient is the first…”
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Follow-up of a patient with partial trisomy 9p and partial monosomy 8p; description of physical and psychosocial development by Ausems, M G, Van Spijker, H G, Dijkhuis, H J, Swanenburg De Veye, H F, Bijlsma, J B

“…A patient is described with partial trisomy 9p and partial monosomy 8p due to a maternal translocation (t(8;9)(p23;p13)). The clinical phenotype is compatible…”
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Myotonic dystrophy associated with hereditary motor and sensory neuropathy by Spaans, F, Jennekens, F G, Mirandolle, J F, Bijlsma, J B, de Gast, G C

“…Thirteen members of a large family presented with a hereditary motor and sensory neuropathy (HMSN); 8 of them also showed more or less prominent signs of…”
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Familial occurrence of intracranial aneurysms in childhood: a case report and review of the literature by ter Berg, H W, Bijlsma, J B, Willemse, J

“…This report describes three individuals belonging to one family, who were affected with ruptured intracranial aneurysms (IAs) at a rather young age, 4, 15 and…”
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Martsolf syndrome in a brother and sister: clinical features and pattern of inheritance by HENNEKAM, R. C. M, VAN DE MEEBERG, A. G, VAN DOORNE, J. M, DIJKSTRA, P. F, BIJLSMA, J. B

“…A brother and sister with Martsolf syndrome are reported. The main characteristics of the syndrome are mental retardation, short stature, cataracts,…”
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Treatment of intact familial intracranial aneurysms: a decision-analytical approach by ter Berg, H W, Dippel, D W, Habbema, J D, Bijlsma, J B, van Gijn, J, Tulleken, C A, Willemse, J

“…Clinical decision analysis is applied to the treatment decisions for four patients with unruptured familial aneurysms. The surgical treatment was uneventful in…”
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Sutural cataract, retinitis pigmentosa, microcephaly and psychomotor retardation. A new autosomal recessive disorder? by Ippel, P F, Wittebol-Post, D, van Nesselrooij, B P, Bijlsma, J B

“…We report four children (three sibs and one sporadic case) with congenital sutural cataract (opacity of the sutures of the crystalline lens), retinitis…”
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Detection of unruptured familial intracranial aneurysms by intravenous digital subtraction angiography: screening of two affected families by TER BERG, J. W. M, OVERTOOM, T. M. D, LUDWIG, J. W, BIJLSMA, J. B, TULLEKEN, C. A. F, WILLEMSE, J

“…The authors discuss the detection of intracranial aneurysms (IA) by means of intravenous digital angiography (ivDSA) in (a)symptomatic first degree relatives…”
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Interstitial deletion of the long arm of chromosome 11 by Klep-de Pater, J M, de France, H F, Bijlsma, J B

“…A girl with an interstitial deletion of the long arm of chromosome 11 is described. The patient was mildly mentally retarded and showed some facial dysmorphic…”
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Megalencephaly: definition and classification by Gooskens, R H, Willemse, J, Bijlsma, J B, Hanlo, P W

“…The various definitions and classifications of megalencephaly are reviewed, and numerous diseases and syndromes associated with megalencephaly are listed. A…”
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Craniofacial dysostosis, hypertrichosis, genital hypoplasia, ocular, dental, and digital defects: confirmation of the Gorlin-Chaudhry-Moss syndrome by Ippel, P F, Gorlin, R J, Lenz, W, van Doorne, J M, Bijlsma, J B

“…We report clinical, orofacial and radiological manifestations in a 4-year-old girl and a 33-year-old female with the Gorlin-Chaudhry-Moss (GCM) syndrome…”
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Further delineation of the 3-M syndrome with review of the literature by Hennekam, R C, Bijlsma, J B, Spranger, J

“…The 3-M syndrome is a clinically recognizable disorder characterized by prenatal and postnatal growth retardation and a spectrum of consistent minor anomalies…”
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TRIPLE MOSAICISM OF THE SEX CHROMOSOMES IN A PHENOTYPICAL FEMALE by BIJLSMA, J B, JAMES, J, DRUKKER, W

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Partial monosomy 10p syndrome by Klep-de Pater, J M, Bijlsma, J B, Alkema, F M

“…A 7 year-old girl is described with a de novo deletion of the short arm of chromosome 10 (qter p13:). The clinical features of: mental retardation, a large…”
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Localization of Haptoglobin and ABO by HUSTINX, T. W. J, BIJLSMA, J. B, NIJENHUIS, L. E

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Familial association of intracranial aneurysms and multiple congenital anomalies by ter Berg, H W, Bijlsma, J B, Veiga Pires, J A, Ludwig, J W, van der Heiden, C, Tulleken, C A, Willemse, J

“…The familial occurrence of intracranial aneurysms and the possible relationship with connective tissue disease are discussed. We studied a large family in…”
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Elastosis perforans serpiginosa. Report of a family with a chromosal investigation by Woerdeman, M J, Bour, D J, Bijlsma, J B

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