Opposite effects on facial morphology due to gene dosage sensitivity

The phenotypic spectrum of duplication 5q35.2-q35.3 encompassing NSD1 : Is it really a reversed sotos syndrome?

(2013) Nicola Dikow et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Patient with Dup(5)(q35.2-q35.3) reciprocal to the common Sotos syndrome deletion and review of the literature

(2013) Olga Žilina et al.   European Journal of Medical Genetics

Phenotypic impact of genomic structural variation: insights from and for human disease

(2013) Joachim Weischenfeldt et al.   NATURE REVIEWS GENETICS

Fine Tuning of Craniofacial Morphology by Distant-Acting Enhancers

(2013) C. Attanasio et al.   SCIENCE

Diametric gene-dosage effects as windows into neurogenetic architecture

(2012) Bernard Crespi   CURRENT OPINION IN NEUROBIOLOGY

Large-scale objective phenotyping of 3D facial morphology

(2012) Peter Hammond et al.   HUMAN MUTATION

A novel 4p16.3 microduplication distal to WHSC1 and WHSC2 characterized by oligonucleotide array with new phenotypic features

(2011) Andrew B. Cyr et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Reversed clinical phenotype due to a microduplication of Sotos syndrome region detected by array CGH: Microcephaly, developmental delay and delayed bone age

(2011) Han Zhang et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Fine-grained facial phenotype–genotype analysis in Wolf–Hirschhorn syndrome

(2011) Peter Hammond et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

(2011) Sébastien Jacquemont et al.   NATURE

Retinoic Acid Induced 1, RAI1: A Dosage Sensitive Gene Related to Neurobehavioral Alterations Including Autistic Behavior

(2010) Paulina Carmona-Mora et al.   CURRENT GENOMICS

Copy number variants at Williams–Beuren syndrome 7q11.23 region

(2010) Giuseppe Merla et al.   HUMAN GENETICS

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

(2009) Helen V. Firth et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion

(2009) Luis M Franco et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Silver-Russell and Beckwith-Wiedemann Syndromes: Opposite (Epi)Mutations in 11p15 Result in Opposite Clinical Pictures

(2009) Thomas Eggermann   Hormone Research in Paediatrics

Distinct function of 2 chromatin remodeling complexes that share a common subunit, Williams syndrome transcription factor (WSTF)

(2009) K. Yoshimura et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The genomic basis of the Williams – Beuren syndrome

(2008) C. Schubert   CELLULAR AND MOLECULAR LIFE SCIENCES

A genome-wide screen for modifiers of transgene variegation identifies genes with critical roles in development

(2008) Alyson Ashe et al.   GENOME BIOLOGY