Case Reports in Genetics

Table of Contents: 2011

  • Case Reports in Genetics -
  • Special Issue
  • Volume 2011
  • - Article ID 131768
  • - Case Report

Clinical Findings Associated with a De Novo Partial Trisomy 10p11.22p15.3 and Monosomy 7p22.3 Detected by Chromosomal Microarray Analysis

Omid Kohannim | Jane Peredo | ... | Fabiola Quintero-Rivera
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2011
  • - Article ID 143132
  • - Case Report

Monoclonal Gammopathy of Undetermined Significance (MGUS) in a Man with Fragile X-associated Tremor/Ataxia Syndrome

Tanjung A. Sumekar | Aneel A. Ashrani | ... | Randi J. Hagerman
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2011
  • - Article ID 898706
  • - Case Report

Pure Duplication of the Distal Long Arm of Chromosome 15 with Ebstein Anomaly and Clavicular Anomaly

Rachel O'Connor | Amel Al-Murrani | ... | Donald R. Love
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2011
  • - Article ID 428714
  • - Case Report

Bartsocas-Papas Syndrome: Unusual Findings in the First Reported Egyptian Family

E. M. Abdalla | H. Morsy
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2011
  • - Article ID 768610
  • - Case Report

A De Novo Whole GCK Gene Deletion Not Detected by Gene Sequencing, in a Boy with Phenotypic GCK Insufficiency

N. H. Birkebæk | J. S. Sørensen | ... | T. Hansen
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2011
  • - Article ID 306072
  • - Case Report

Chromosome Deletion of 14q32.33 Detected by Array Comparative Genomic Hybridization in a Patient with Features of Dubowitz Syndrome

Diana C. Darcy | Scott Rosenthal | Robert J. Wallerstein
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2011
  • - Article ID 396450
  • - Case Report

Clinical Expression of an Inherited Unbalanced Translocation in Chromosome 6

Bani Bandana Ganguly | Vijay Kadam | Nitin N. Kadam
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2011
  • - Article ID 839650
  • - Case Report

MOMO Syndrome with Holoprosencephaly and Cryptorchidism: Expanding the Spectrum of the New Obesity Syndrome

Sheetal Sharda | Inusha Panigrahi | Ram Kumar Marwaha
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2011
  • - Article ID 585893
  • - Case Report

A Novel Microduplication in the Neurodevelopmental Gene SRGAP3 That Segregates with Psychotic Illness in the Family of a COS Proband

Nicole K. A. Wilson | Yohan Lee | ... | Anjené M. Addington
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2011
  • - Article ID 703497
  • - Case Report

Novel Sonic Hedgehog Mutation in a Couple with Variable Expression of Holoprosencephaly

M. Aguinaga | I. Llano | ... | S. Kofman Alfaro
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2011
  • - Article ID 158086
  • - Case Report

Inheritance of a Ring Chromosome 21 in a Couple Undergoing In Vitro Fertilization (IVF): A Case Report

Roberto L. P. Mazzaschi | Donald R. Love | ... | Alice George
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2011
  • - Article ID 913020
  • - Case Report

Premature Moustache As Presenting Symptom of Nonclassic Congenital Adrenal Hyperplasia due to 2 Uncommon Mutations of the CYP21A2 Gene

Guy Massa | Philippe Gillis | Marianne Schwartz
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2011
  • - Article ID 945181
  • - Case Report

Synchronous Pulmonary Squamous Cell Carcinoma and Mantle Cell Lymphoma of the Lymph Node

Yu Sun | Yun-Fei Shi | ... | Xiang-Hong Li
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2011
  • - Article ID 258978
  • - Case Report

Intrafamilial Variability of Early-Onset Diabetes due to an INS Mutation

Siri Fredheim | Jannet Svensson | ... | Lotte Brøndum Nielsen
  • Case Reports in Genetics -
  • Special Issue
  • Volume 2011
  • - Article ID 421582
  • - Case Report

Vici Syndrome: A Rare Autosomal Recessive Syndrome with Brain Anomalies, Cardiomyopathy, and Severe Intellectual Disability

R. Curtis Rogers | Bridgette Aufmuth | Stephanie Monesson
Case Reports in Genetics
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