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Volume 4, Issue 4
April 2013
Molecular Syndromology Cover Image for Volume 4, Issue 4
All Issues
ISSN 1661-8769
EISSN 1661-8777
In this Issue

Molecular Syndromology 2013, Vol. 4, No. 4

Original Article

Genotypes and Phenotypes of 162 Families with a Glomulin Mutation
P. Brouillard; L.M. Boon; N. Revencu; J. Berg; A. Dompmartin; J. Dubois; M. Garzon; S. Holden; L. Kangesu; C. Labrèze; S.A. Lynch; C. McKeown; R. Meskauskas; I. Quere; S. Syed; P. Vabres; M. Wassef; J.B. Mulliken; M. Vikkula; GVM Study Group
Mol Syndromol (2013) 4 (4): 157–164. https://doi.org/10.1159/000348675
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CCM3 Mutations Are Associated with Early-Onset Cerebral Hemorrhage and Multiple Meningiomas
F. Riant; F. Bergametti; H.-D. Fournier; F. Chapon; S. Michalak-Provost; M. Cecillon; P. Lejeune; H. Hosseini; C. Choe; M. Orth; C. Bernreuther; G. Boulday; C. Denier; P. Labauge; E. Tournier-Lasserve
Mol Syndromol (2013) 4 (4): 165–172. https://doi.org/10.1159/000350042
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Germline Mutations in RASA1 Are Not Found in Patients with Klippel-Trenaunay Syndrome or Capillary Malformation with Limb Overgrowth
N. Revencu; L.M. Boon; A. Dompmartin; P. Rieu; W.L. Busch; J. Dubois; F. Forzano; J.M. van Hagen; S. Halbach; A. Kuechler; A.M.A. Lachmeijer; J. Lähde; L. Russell; K.O.J. Simola; J.B. Mulliken; M. Vikkula
Mol Syndromol (2013) 4 (4): 173–178. https://doi.org/10.1159/000349919
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Variable Somatic TIE2 Mutations in Half of Sporadic Venous Malformations
J. Soblet; N. Limaye; M. Uebelhoer; L.M. Boon; M. Vikkula
Mol Syndromol (2013) 4 (4): 179–183. https://doi.org/10.1159/000348327
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Directional Next-Generation RNA Sequencing and Examination of Premature Termination Codon Mutations in Endoglin/Hereditary Haemorrhagic Telangiectasia
F.S. Govani; A. Giess; I.G. Mollet; M.E. Begbie; M.D. Jones; L. Game; C.L. Shovlin
Mol Syndromol (2013) 4 (4): 184–196. https://doi.org/10.1159/000350208
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Case Report

Aicardi Syndrome Associated with Autosomal Genomic Imbalance: Coincidence or Evidence for Autosomal Inheritance with Sex-Limited Expression?
P. Prontera; A. Bartocci; V. Ottaviani; I. Isidori; D. Rogaia; C. Ardisia; G. Guercini; A. Mencarelli; E. Donti
Mol Syndromol (2013) 4 (4): 197–202. https://doi.org/10.1159/000350040
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Mucopolysaccharidosis Type II and the G374sp Mutation
E. Martínez-Quintana; F. Rodríguez-González
Mol Syndromol (2013) 4 (4): 203–206. https://doi.org/10.1159/000346842
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Alagille Syndrome: A New Missense Mutation Detected by Whole-Exome Sequencing in a Case Previously Found to Be Negative by DHPLC and MLPA
D. Vozzi; D. Licastro; S. Martelossi; E. Athanasakis; P. Gasparini; A. Fabretto
Mol Syndromol (2013) 4 (4): 207–210. https://doi.org/10.1159/000347231
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Confirmation of the Hotspot Variant in MAP3K20 Responsible for Deafness, Ectodermal Dysplasia, Craniosynosytosis, Ectrodactyly and Skeletal Anomaly (DECES) Spectrum
First Reported Co-occurrence of Bardet-Biedl Syndrome Type 10 and Autism Spectrum Disorder: A Case Report and Clinical Review
Genetic analysis strategy for diagnosing congenital heart disease
A rare case of Bardet-Biedl syndrome caused by a heterozygous point variant in BBS7 and a CNV involved BBS7
  • Online ISSN 1661-8777
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