A rare de novo interstitial duplication of 15q15.3q21.2 in a boy with severe short stature, hypogonadism, global developmental delay and intellectual disability

DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human disease

(2015) Jenifer P. Suntharalingham et al.   BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM

Rubinstein-Taybi Syndrome

(2015) Douglas T. Hutchinson et al.   JOURNAL OF HAND SURGERY-AMERICAN VOLUME

Delineating the 15q13.3 microdeletion phenotype: a case series and comprehensive review of the literature

(2014) Chelsea Lowther et al.   GENETICS IN MEDICINE

The Clinical and Molecular Characterization of Patients With Dyshormonogenic Congenital Hypothyroidism Reveals Specific Diagnostic Clues for DUOX2 Defects

(2014) M. Muzza et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Characterization of core clinical phenotypes associated with recurrent proximal 15q25.2 microdeletions

(2013) Trent Burgess et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The Interstitial Duplication 15q11.2-q13 Syndrome Includes Autism, Mild Facial Anomalies and a Characteristic EEG Signature

(2013) Nora Urraca et al.   Autism Research

Variable behavioural phenotypes of patients with monosomies of 15q26 and a review of 16 cases

(2013) Martin Poot et al.   European Journal of Medical Genetics

Proximal and distal 15q25.2 microdeletions-genotype-phenotype delineation of two neurodevelopmental susceptibility loci

(2012) Sandra C. Doelken et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

An emerging phenotype of interstitial 15q25.2 microdeletions: Clinical report and review

(2012) Orazio Palumbo et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Congenital hypothyroidism caused by a novel mutation of the dual oxidase 2 (DUOX2) gene

(2012) Atsuko Yoshizawa-Ogasawara et al.   JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM

Steroidogenic Factor-1 and Human Disease

(2012) Ranna El-Khairi et al.   SEMINARS IN REPRODUCTIVE MEDICINE

Increased EID1 nuclear translocation impairs synaptic plasticity and memory function associated with pathogenesis of Alzheimer's disease

(2011) Rugao Liu et al.   NEUROBIOLOGY OF DISEASE

Case Report: Partial trisomy of 15q due to inserted inverted duplication

(2010) Nursel Elçioglu et al.   CLINICAL GENETICS

Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?

(2010) Przemyslaw Szafranski et al.   HUMAN MUTATION

Recurrent microdeletions of 15q25.2 are associated with increased risk of congenital diaphragmatic hernia, cognitive deficits and possibly Diamond-Blackfan anaemia

(2010) M. J. Wat et al.   JOURNAL OF MEDICAL GENETICS

15q overgrowth syndrome: A newly recognized phenotype associated with overgrowth, learning difficulties, characteristic facial appearance, renal anomalies and increased dosage of distal chromosome 15q

(2009) Katrina Tatton-Brown et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mechanisms of imprinting of the Prader-Willi/Angelman region

(2008) Bernhard Horsthemke et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The inv dup (15) or idic (15) syndrome (Tetrasomy 15q)

(2008) Agatino Battaglia   Orphanet Journal of Rare Diseases

Biallelic Inactivation of the Dual Oxidase Maturation Factor 2 (DUOXA2) Gene as a Novel Cause of Congenital Hypothyroidism

(2007) Ilaria Zamproni et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM