Obesity with associated developmental delay and/or learning disability in patients exhibiting additional features: Report of novel pathogenic copy number variants

Genetics of Obesity: What have we Learned?

(2012) Helene Choquet et al.   CURRENT GENOMICS

Role of Neurotrophins in the Development and Function of Neural Circuits That Regulate Energy Homeostasis

(2012) Samira Fargali et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

A 1.1 Million Base Pair X-Chromosomal Deletion Covering the PDHA1 and CDKL5 Genes in a Female Patient with West Syndrome and Pyruvate Oxidation Deficiency

(2012) Johannes Mayr et al.   NEUROPEDIATRICS

MYT1L is a candidate gene for intellectual disability in patients with 2p25.3 (2pter) deletions

(2011) Servi J.C. Stevens et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A novel interstitial microdeletion of 7q22.1-7q22.3 detected by array comparative genomic hybridization

(2011) Zuhair N. Al-Hassnan et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions

(2011) Sarah Vergult et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis

(2011) F. Kortum et al.   JOURNAL OF MEDICAL GENETICS

Microarray based analysis of an inherited terminal 3p26.3 deletion, containing only the CHL1 gene, from a normal father to his two affected children

(2011) Cristina Cuoco et al.   Orphanet Journal of Rare Diseases

Haploinsufficiency of HDAC4 Causes Brachydactyly Mental Retardation Syndrome, with Brachydactyly Type E, Developmental Delays, and Behavioral Problems

(2010) Stephen R. Williams et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Terminal 3p deletions in two families-Correlation between molecular karyotype and phenotype

(2010) Pia Pohjola et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Molecular and clinical characterization of patients with overlapping 10p deletions

(2010) Anna Lindstrand et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The obesity gene, TMEM18, is of ancient origin, found in majority of neuronal cells in all major brain regions and associated with obesity in severely obese children

(2010) Markus Sällman Almén et al.   BMC Medical Genetics

Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader–Willi syndrome

(2010) Angela L Duker et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

3.2 Mb microdeletion in chromosome 7 bands q22.2–q22.3 associated with overgrowth and delayed bone age

(2010) Vera Uliana et al.   European Journal of Medical Genetics

Rai1 haploinsufficiency causes reduced Bdnf expression resulting in hyperphagia, obesity and altered fat distribution in mice and humans with no evidence of metabolic syndrome

(2010) Brooke Burns et al.   HUMAN MOLECULAR GENETICS

Deletion at chromosomal band Xp22.12–Xp22.13 involving PDHA1 in a patient with congenital lactic acidosis

(2010) Benjamin H. Singer et al.   MOLECULAR GENETICS AND METABOLISM

A genome-wide association study on common SNPs and rare CNVs in anorexia nervosa

(2010) K Wang et al.   MOLECULAR PSYCHIATRY

A new highly penetrant form of obesity due to deletions on chromosome 16p11.2

(2010) R. G. Walters et al.   NATURE

Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index

(2010) Elizabeth K Speliotes et al.   NATURE GENETICS

Genomic insights into early-onset obesity

(2010) Hélène Choquet et al.   Genome Medicine

Xp22.3 genomic deletions involving theCDKL5gene in girls with early onset epileptic encephalopathy

(2009) Davide Mei et al.   EPILEPSIA

Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype

(2009) T Kleefstra et al.   JOURNAL OF MEDICAL GENETICS

Large, rare chromosomal deletions associated with severe early-onset obesity

(2009) Elena G. Bochukova et al.   NATURE

The genetic contribution to non-syndromic human obesity

(2009) Andrew J. Walley et al.   NATURE REVIEWS GENETICS

Detailed phenotype–genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader–Willi-like phenotype

(2008) Maria Clara Bonaglia et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Prader–Willi syndrome

(2008) Suzanne B Cassidy et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Brain-Derived Neurotrophic Factor and Obesity in the WAGR Syndrome

(2008) Joan C. Han et al.   NEW ENGLAND JOURNAL OF MEDICINE

Adiponectin and leptin are secreted through distinct trafficking pathways in adipocytes

(2007) Linglin Xie et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE