Investigation of (Epi)genetic causes in syndromic short children born small for gestational age

Pathogenic copy number and sequence variants in children born SGA with short stature without imprinting disorders

(2022) Kaori Hara-Isono et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Natural history of Myhre syndrome

(2022) David Dawei Yang et al.   Orphanet Journal of Rare Diseases

Phenotypes of Cornelia de Lange syndrome caused by non-cohesion genes: Novel variants and literature review

(2022) Huakun Shangguan et al.   Frontiers in Pediatrics

SHORT Syndrome: an Update on Pathogenesis and Clinical Spectrum

(2022) Naama Fisch Shvalb   Current Diabetes Reports

Focused Revision: ACMG practice resource: Genetic evaluation of short stature

(2021) Cassie S. Mintz et al.   GENETICS IN MEDICINE

Exome sequencing reveals genetic architecture in patients with isolated or syndromic short stature

(2021) Xin Fan et al.   Journal of Genetics and Genomics

Clinical relevance of targeted exome sequencing in patients with rare syndromic short stature

(2021) Gilyazetdinov Kamil et al.   Orphanet Journal of Rare Diseases

Natural history of facial and skeletal features from neonatal period to adulthood in a 3M syndrome cohort with biallelic CUL7 or OBSL1 variants

(2021) Beyhan Tüysüz et al.   European Journal of Medical Genetics

The Methylation Status in the Chromosome 11p15.5 Region and Metabolic Disorders in Children with Syndromic and Nonsyndromic Intrauterine Growth Restriction

(2021) Emre Özer et al.   Molecular Syndromology

Further definition of the proximal 19p13.3 microdeletion/microduplication syndrome and implication of PIAS4 as the major contributor

(2020) Jair Tenorio et al.   CLINICAL GENETICS

Fanconi Anemia Pathway: Mechanisms of Breast Cancer Predisposition Development and Potential Therapeutic Targets

(2020) Can-Bin Fang et al.   Frontiers in Cell and Developmental Biology

Role of Imprinting Disorders in Short Children Born SGA and Silver-Russell Syndrome Spectrum

(2020) Tomoko Fuke et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Multigene sequencing analysis of children born small for gestational age with isolated short stature

(2019) Bruna L Freire et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Syndromic Disorders Caused by Disturbed Human Imprinting

(2019) Diana Carli et al.   Journal of Clinical Research in Pediatric Endocrinology

Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations

(2019) Georgios N. Tsaousis et al.   BMC CANCER

Myhre syndrome: A first familial recurrence and broadening of the phenotypic spectrum

(2019) Ilse Meerschaut et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)

(2019) Erin Rooney Riggs et al.   GENETICS IN MEDICINE

Genetic Disorders in Prenatal Onset Syndromic Short Stature Identified by Exome Sequencing

(2019) Thais Kataoka Homma et al.   JOURNAL OF PEDIATRICS

Clinicopathologic features and genetic characteristics of the BRCA1/2 mutation in Turkish breast cancer patients

(2019) Gulsah Cecener et al.   Cancer Genetics

Molecular and clinical studies in 8 patients with Temple syndrome

(2018) G. Gillessen-Kaesbach et al.   CLINICAL GENETICS

Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement

(2018) Antonie D. Kline et al.   NATURE REVIEWS GENETICS

A genetic approach to evaluation of short stature of undetermined cause

(2018) Philip G Murray et al.   Lancet Diabetes & Endocrinology

Genetic Evaluation of 114 Chinese Short Stature Children in the Next Generation Era: a Single Center Study

(2018) Zhuo Huang et al.   CELLULAR PHYSIOLOGY AND BIOCHEMISTRY

HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients

(2017) Stéphanie Moortgat et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature

(2017) Nadine N Hauer et al.   GENETICS IN MEDICINE

Recurrent Copy Number Variants Associated with Syndromic Short Stature of Unknown Cause

(2017) Thais K. Homma et al.   Hormone Research in Paediatrics

Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin–Siris syndrome-like phenotype

(2017) Nuria C. Bramswig et al.   HUMAN GENETICS

Biallelic mutations in the ubiquitin ligase RFWD3 cause Fanconi anemia

(2017) Kerstin Knies et al.   JOURNAL OF CLINICAL INVESTIGATION

Examinations of maternal uniparental disomy and epimutations for chromosomes 6, 14, 16 and 20 in Silver-Russell syndrome-like phenotypes

(2016) Jana Sachwitz et al.   BMC Medical Genetics

Clinical and immunologic phenotype associated with activated phosphoinositide 3-kinase δ syndrome 2: A cohort study

(2016) Elodie Elkaim et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

ACAN gene mutations in short children born SGA and response to Growth Hormone treatment

(2016) Manouk van der Steen et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

The Biology of Stature

(2016) Youn Hee Jee et al.   JOURNAL OF PEDIATRICS

The aggrecanopathies; an evolving phenotypic spectrum of human genetic skeletal diseases

(2016) Beth G. Gibson et al.   Orphanet Journal of Rare Diseases

Genomic insights into growth and its disorders

(2016) Christiaan de Bruin et al.   Current Opinion in Endocrinology Diabetes and Obesity

Temple syndrome as a result of isolated hypomethylation of the 14q32 imprinted DLK1/MEG3 region

(2015) Tracy A. Briggs et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

22q11.21 Deletion Syndromes: A Review of Proximal, Central, and Distal Deletions and Their Associated Features

(2015) Rachel D. Burnside   CYTOGENETIC AND GENOME RESEARCH

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Genome-wide screening of copy number variants in children born small for gestational age reveals several candidate genes involved in growth pathways

(2014) Ana P M Canton et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Genomic analysis of primordial dwarfism reveals novel disease genes

(2014) R. Shaheen et al.   GENOME RESEARCH

Copy Number Variants in Short Children Born Small for Gestational Age

(2014) Jan M. Wit et al.   Hormone Research in Paediatrics

Functional analysis of candidate genes in 2q13 deletion syndrome implicates FBLN7 and TMEM87B deficiency in congenital heart defects and FBLN7 in craniofacial malformations

(2014) Mark W. Russell et al.   HUMAN MOLECULAR GENETICS

Copy number variants in patients with short stature

(2013) Hermine A van Duyvenvoorde et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Rare Copy Number Variants Are a Common Cause of Short Stature

(2013) Diana Zahnleiter et al.   PLoS Genetics

On the nosology and pathogenesis of Wolf-Hirschhorn syndrome: Genotype-phenotype correlation analysis of 80 patients and literature review

(2008) Marcella Zollino et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes

(2008) D Bartholdi et al.   JOURNAL OF MEDICAL GENETICS