UB Paderborn / Katalog / Suche / in CDI

Somatic mutations in ATP1A1 and CACNA1D underlie a common subtype of adrenal hypertension

Nature genetics, 2013-09, Vol.45 (9), p.1055-1060

2013

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Human Semaphorin 3 Variants Link Melanocortin Circuit Development and Energy Balance

Cell, 2019-02, Vol.176 (4), p.729-742.e18

2019

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A Transcriptomic Signature of the Hypothalamic Response to Fasting and BDNF Deficiency in Prader-Willi Syndrome

Cell reports (Cambridge), 2018-03, Vol.22 (13), p.3401-3408

2018

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Mutations of Ephrin-B1 (EFNB1), a Marker of Tissue Boundary Formation, Cause Craniofrontonasal Syndrome

Proceedings of the National Academy of Sciences - PNAS, 2004-06, Vol.101 (23), p.8652-8657

2004

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Cell mixing at a neural crest-mesoderm boundary and deficient ephrin-Eph signaling in the pathogenesis of craniosynostosis

Human molecular genetics, 2006-04, Vol.15 (8), p.1319-1328

2006

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Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity

Nature genetics, 2013-05, Vol.45 (5), p.513-517

2013

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Transcriptomics of the Prader–Willi syndrome hypothalamus

Handbook of Clinical Neurology, 2021, Vol.181, p.369-379

Bochukova, Elena G.

2021

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Exome Sequencing Identifies Genes and Gene Sets Contributing to Severe Childhood Obesity, Linking PHIP Variants to Repressed POMC Transcription

Cell metabolism, 2020-06, Vol.31 (6), p.1107-1119.e12

2020

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

Nature (London), 2010-02, Vol.463 (7281), p.666-670

2010

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Disruption of the homeodomain transcription factor orthopedia homeobox (Otp) is associated with obesity and anxiety

Molecular metabolism (Germany), 2017-11, Vol.6 (11), p.1419-1428

2017

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Human SH2B1 mutations are associated with maladaptive behaviors and obesity

The Journal of clinical investigation, 2012-12, Vol.122 (12), p.4732-4736

2012

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Rare variants in single-minded 1 (SIM1) are associated with severe obesity

The Journal of clinical investigation, 2013-07, Vol.123 (7), p.3042-3050

2013

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Functional Characterization of Obesity-Associated Variants Involving the α and β Isoforms of Human SH2B1

Endocrinology (Philadelphia), 2014-09, Vol.155 (9), p.3219-3226

2014

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Rare mutations of FGFR2 causing apert syndrome: identification of the first partial gene deletion, and an Alu element insertion from a new subfamily

Human mutation, 2009-02, Vol.30 (2), p.204-211

2009

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Scalp fibroblasts have a shared expression profile in monogenic craniosynostosis

Journal of medical genetics, 2010-12, Vol.47 (12), p.803-808

2010

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Clinical dividends from the molecular genetic diagnosis of craniosynostosis

American journal of medical genetics. Part A, 2007-08, Vol.143A (16), p.1941-1949

2007

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Clinical dividends from the molecular genetic diagnosis of craniosynostosis

American journal of medical genetics. Part A, 2006-12, Vol.140A (23), p.2631-2639

2006

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Steroid receptor coactivator-1 modulates the function of Pomc neurons and energy homeostasis

Nature communications, 2019-04, Vol.10 (1), p.1718-14, Article 1718

2019

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Genomic studies of gene expression: regulation of the Wilson disease gene

Genomics (San Diego, Calif.), 2003-06, Vol.81 (6), p.531-542

2003

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Human SH2B1 mutations are associated with maladaptive behaviors and obesity

The Journal of clinical investigation, 2012-12, Vol.122 (12), p.4732

2012

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Rare variants in single-minded 1 (SIM1) are associated with severe obesity

The Journal of clinical investigation, 2013-08, Vol.123 (8), p.3635-3635

2013

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Human SH2B1 mutations are associated with maladaptive behaviors and obesity

The Journal of clinical investigation, 2013-01, Vol.123 (1), p.526-526

2013

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CNV Analysis in Tourette Syndrome Implicates Large Genomic Rearrangements in COL8A1 and NRXN1. e59061

PloS one, 2013-03, Vol.8 (3)

2013

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Somatic mutations in ATP1A1 and CACNA1D underlie a common subtype of adrenal hypertension

Human Semaphorin 3 Variants Link Melanocortin Circuit Development and Energy Balance

KSR2 Mutations Are Associated with Obesity, Insulin Resistance, and Impaired Cellular Fuel Oxidation

A Transcriptomic Signature of the Hypothalamic Response to Fasting and BDNF Deficiency in Prader-Willi Syndrome

Mutations of Ephrin-B1 (EFNB1), a Marker of Tissue Boundary Formation, Cause Craniofrontonasal Syndrome

CNV analysis in Tourette syndrome implicates large genomic rearrangements in COL8A1 and NRXN1

Cell mixing at a neural crest-mesoderm boundary and deficient ephrin-Eph signaling in the pathogenesis of craniosynostosis

Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity

Transcriptomics of the Prader–Willi syndrome hypothalamus

Exome Sequencing Identifies Genes and Gene Sets Contributing to Severe Childhood Obesity, Linking PHIP Variants to Repressed POMC Transcription

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

Disruption of the homeodomain transcription factor orthopedia homeobox (Otp) is associated with obesity and anxiety

Human SH2B1 mutations are associated with maladaptive behaviors and obesity

Rare variants in single-minded 1 (SIM1) are associated with severe obesity

Functional Characterization of Obesity-Associated Variants Involving the α and β Isoforms of Human SH2B1

Rare mutations of FGFR2 causing apert syndrome: identification of the first partial gene deletion, and an Alu element insertion from a new subfamily

Scalp fibroblasts have a shared expression profile in monogenic craniosynostosis

Clinical dividends from the molecular genetic diagnosis of craniosynostosis

Clinical dividends from the molecular genetic diagnosis of craniosynostosis

Steroid receptor coactivator-1 modulates the function of Pomc neurons and energy homeostasis

Genomic studies of gene expression: regulation of the Wilson disease gene

Human SH2B1 mutations are associated with maladaptive behaviors and obesity

Rare variants in single-minded 1 (SIM1) are associated with severe obesity

Human SH2B1 mutations are associated with maladaptive behaviors and obesity

CNV Analysis in Tourette Syndrome Implicates Large Genomic Rearrangements in COL8A1 and NRXN1. e59061

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