4.7 Article

Atypical 15q11.2-q13 Deletions and the Prader-Willi Phenotype

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Medicine, General & Internal

Prenatal and Neonatal Characteristics of Children with Prader-Willi Syndrome

Lionne N. Grootjen et al.

Summary: The study compared the perinatal and neonatal features of infants with Prader-Willi syndrome (PWS) to healthy infants, identifying significant differences in variables such as maternal age, birth weight, and prevalence of certain conditions. Early diagnosis is crucial for multidisciplinary treatment of PWS patients.

JOURNAL OF CLINICAL MEDICINE (2022)

Article Medicine, General & Internal

Long-Term Growth Hormone Treatment of Children with PWS: The Earlier the Start, the Better the Outcomes?

Lionne N. Grootjen et al.

Summary: This study compared the long-term effects of growth hormone (GH) treatment in young children with Prader-Willi syndrome (PWS) to untreated controls and assessed whether starting GH in the first year of life is optimal and safe. The results showed that GH-treated children had better body composition and growth compared to untreated controls. Starting GH treatment in the first year of life was found to be both optimal and safe.

JOURNAL OF CLINICAL MEDICINE (2022)

Article Genetics & Heredity

Mosaic de novo SNRPN gene variant associated with Prader-Willi syndrome

Yue Huang et al.

Summary: The study reports the first case of PWS associated with a de novo mosaic nonsense variant of the SNRPN gene, suggesting that gene sequencing should be considered in patients with clinical suspicion of PWS.

JOURNAL OF MEDICAL GENETICS (2021)

Review Genetics & Heredity

The Diagnostic Journey of a Patient with Prader-Willi-Like Syndrome and a Unique Homozygous SNURF-SNRPN Variant; Bio-Molecular Analysis and Review of the Literature

Karlijn Pellikaan et al.

Summary: Prader-Willi syndrome is a rare genetic condition characterized by hypotonia, intellectual disability, and hyperphagia leading to obesity. Patients with Prader-Willi-like syndrome display some PWS features without the classical genetic defect. This study describes a unique homozygous missense variant in a PWLS patient and analyzes the potential pathogenicity of the identified variant.
Article Endocrinology & Metabolism

Heterozygous Deletions in MKRN3 Cause Central Precocious Puberty Without Prader-Willi Syndrome

Brooke N. Meader et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2020)

Review Genetics & Heredity

The new genetics of intelligence

Robert Plomin et al.

NATURE REVIEWS GENETICS (2018)

Article Genetics & Heredity

A novel deletion of SNURF/SNRPN exon 1 in a patient with Prader-Willi-like phenotype

Yang Cao et al.

EUROPEAN JOURNAL OF MEDICAL GENETICS (2017)

Article Genetics & Heredity

SNORD116 deletions cause Prader-Willi syndrome with a mild phenotype and macrocephaly

P. Fontana et al.

CLINICAL GENETICS (2017)

Article Genetics & Heredity

Prader-Willi syndrome and atypical submicroscopic 15q11-q13 deletions with or without imprinting defects

Maaz Hassan et al.

EUROPEAN JOURNAL OF MEDICAL GENETICS (2016)

Review Biology

Regulatory links between imprinted genes: evolutionary predictions and consequences

Manus M. Patten et al.

PROCEEDINGS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES (2016)

Article Multidisciplinary Sciences

Snord116 is critical in the regulation of food intake and body weight

Yue Qi et al.

SCIENTIFIC REPORTS (2016)

Review Biochemistry & Molecular Biology

The 15q11.2 BP1-BP2 Microdeletion Syndrome: A Review

Devin M. Cox et al.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2015)

Review Endocrinology & Metabolism

Prader-Willi syndrome: a review of clinical, genetic, and endocrine findings

M. A. Angulo et al.

JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION (2015)

Article Biochemistry & Molecular Biology

Highly restricted deletion of the SNORD116 region is implicated in Prader-Willi Syndrome

Eric Bieth et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2015)

Article Genetics & Heredity

Small Mosaic Deletion Encompassing the snoRNAs and SNURF-SNRPN Results in an Atypical Prader-Willi Syndrome Phenotype

Britt-Marie Anderlid et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2014)

Letter Genetics & Heredity

Clinical phenotypes of MAGEL2 mutations and deletions

Karin Buiting et al.

ORPHANET JOURNAL OF RARE DISEASES (2014)

Article Endocrinology & Metabolism

Growth Hormone Research Society Workshop Summary: Consensus Guidelines for Recombinant Human Growth Hormone Therapy in Prader-Willi Syndrome

Cheri L. Deal et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2013)

Article Endocrinology & Metabolism

Eight Years of Growth Hormone Treatment in Children With Prader-Willi Syndrome: Maintaining the Positive Effects

N. E. Bakker et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2013)

Article Biochemistry & Molecular Biology

Unique and atypical deletions in Prader-Willi syndrome reveal distinct phenotypes

Soo-Jeong Kim et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2012)

Review Genetics & Heredity

Prader-Willi syndrome

Suzanne B. Cassidy et al.

GENETICS IN MEDICINE (2012)

Article Genetics & Heredity

Nutritional Phases in Prader-Willi Syndrome

Jennifer L. Miller et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2011)

Article Environmental Sciences

Precise Microdeletion Detection of Prader-Willi Syndrome with Array Comparative Genome Hybridization

Xin-Yu Shao et al.

BIOMEDICAL AND ENVIRONMENTAL SCIENCES (2010)

Article Genetics & Heredity

Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes

Simon C. Ramsden et al.

BMC MEDICAL GENETICS (2010)

Article Biochemistry & Molecular Biology

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

Angela L. Duker et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2010)

Article Biochemistry & Molecular Biology

A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader-Willi syndrome

Deniz Kanber et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2009)

Article Biochemistry & Molecular Biology

A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadism

Adam J. de Smith et al.

HUMAN MOLECULAR GENETICS (2009)

Article Genetics & Heredity

Molecular and clinical characterization of two patients with Prader-Willi syndrome and atypical deletions of proximal chromosome 15q

Gabriela Calounova et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2008)

Review Endocrinology & Metabolism

Recommendations for the Diagnosis and Management of Prader-Willi Syndrome

A. P. Goldstone et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2008)

Article Pediatrics

Body index measurements in 1996-7 compared with 1980

AM Fredriks et al.

ARCHIVES OF DISEASE IN CHILDHOOD (2000)

Article Pediatrics

Continuing positive secular growth change in the Netherlands 1955-1997

AM Fredriks et al.

PEDIATRIC RESEARCH (2000)