Prader-Willi syndrome. (Q51826464)

13 April 2018

title

Prader-Willi syndrome. (English)

1 reference

13 April 2018

author name string

Suzanne B Cassidy

1

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13 April 2018

Stuart Schwartz

2

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13 April 2018

Jennifer L Miller

3

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13 April 2018

Daniel J Driscoll

4

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13 April 2018

language of work or name

English

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publication date

26 September 2011

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13 April 2018

published in

Genetics in Medicine

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13 April 2018

volume

14

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13 April 2018

page(s)

10-26

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13 April 2018

issue

1

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13 April 2018

https://scigraph.springernature.com/pub.10.1038/gim.0b013e31822bead0

exact match

0 references

cites work

Is gestation in Prader-Willi syndrome affected by the genetic subtype?

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Growth standards of infants with Prader-Willi syndrome

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Nutritional phases in Prader-Willi syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Clinical report—health supervision for children with Prader-Willi syndrome

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Academic underachievement by people with Prader-Willi syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Energy expenditure and physical activity in Prader-Willi syndrome: comparison with obese subjects.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Elevated plasma ghrelin levels in Prader–Willi syndrome

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

High circulating ghrelin: a potential cause for hyperphagia and obesity in prader-willi syndrome

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Serum ghrelin levels are inversely correlated with body mass index, age, and insulin concentrations in normal children and are markedly increased in Prader-Willi syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Elevated fasting plasma ghrelin in prader-willi syndrome adults is not solely explained by their reduced visceral adiposity and insulin resistance

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Fasting and postprandial hyperghrelinemia in Prader-Willi syndrome is partially explained by hypoinsulinemia, and is not due to peptide YY3-36 deficiency or seen in hypothalamic obesity due to craniopharyngioma.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Ghrelin in obesity and endocrine diseases

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Ghrelin levels in young children with Prader-Willi syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Hyperghrelinemia precedes obesity in Prader-Willi syndrome

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Circulating ghrelin levels are suppressed by meals and octreotide therapy in children with Prader-Willi syndrome

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Somatostatin infusion lowers plasma ghrelin without reducing appetite in adults with Prader-Willi syndrome

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Long-acting octreotide treatment causes a sustained decrease in ghrelin concentrations but does not affect weight, behaviour and appetite in subjects with Prader-Willi syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Maladaptive behavior differences in Prader-Willi syndrome due to paternal deletion versus maternal uniparental disomy

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Pervasive developmental disorders in Prader-Willi syndrome: the Leuven experience in 59 subjects and controls.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

ADHD symptoms and insistence on sameness in Prader-Willi syndrome

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Behavioural and emotional disturbances in people with Prader-Willi Syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Maladaptive and compulsive behavior in Prader-Willi syndrome: new insights from older adults

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Psychotic illness in people with Prader Willi syndrome due to chromosome 15 maternal uniparental disomy.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Prader-Willi syndrome, compulsive and ritualistic behaviours: the first population-based survey

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Psychotic disorders in Prader-Willi syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

'A woman with Prader-Willi syndrome gives birth to a healthy baby girl'

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Hypogonadism and pubertal development in Prader-Willi syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Primary testicular dysfunction is a major contributor to abnormal pubertal development in males with Prader-Willi syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Primary ovarian dysfunction contributes to the hypogonadism in women with Prader-Willi Syndrome

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Hypogonadism in females with Prader-Willi syndrome from infancy to adulthood: variable combinations of a primary gonadal defect and hypothalamic dysfunction

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Sustained benefit after 2 years of growth hormone on body composition, fat utilization, physical strength and agility, and growth in Prader-Willi syndrome

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Growth hormone improves body composition and motor development in infants with Prader-Willi syndrome after six months

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Randomized controlled GH trial: effects on anthropometry, body composition and body proportions in a large group of children with Prader-Willi syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Randomized controlled trial to investigate the effects of growth hormone treatment on scoliosis in children with Prader-Willi syndrome

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Benefit of early commencement of growth hormone therapy in children with Prader-Willi syndrome

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Long-term growth hormone therapy changes the natural history of body composition and motor function in children with prader-willi syndrome

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Effects on growth and metabolism of growth hormone treatment for 3 years in 36 children with Prader-Willi syndrome

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

The behavioral impact of growth hormone treatment for children and adolescents with Prader-Willi syndrome: a 2-year, controlled study.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Impairment of GH responsiveness to combined GH-releasing hormone and arginine administration in adult patients with Prader-Willi syndrome

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Five-years growth hormone (GH) treatment in adults with Prader-Willi syndrome

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Growth hormone treatment of adults with Prader-Willi syndrome and growth hormone deficiency improves lean body mass, fractional body fat, and serum triiodothyronine without glucose impairment: results from the United States multicenter trial.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

One year of growth hormone treatment in adults with Prader-Willi syndrome improves body composition: results from a randomized, placebo-controlled study

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Sudden death of an infant with Prader-Willi syndrome--not a unique case?

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Sudden death in growth hormone-treated children with Prader-Willi syndrome

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Growth hormone treatment and adverse events in Prader-Willi syndrome: data from KIGS (the Pfizer International Growth Database).

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Cause of sudden, unexpected death of Prader-Willi syndrome patients with or without growth hormone treatment

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Population prevalence and estimated birth incidence and mortality rate for people with Prader-Willi syndrome in one UK Health Region

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

High prevalence of central adrenal insufficiency in patients with Prader-Willi syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Normal cortisol response on low-dose synacthen (1 microg) test in children with Prader Willi syndrome

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Normal cortisol response to high-dose synacthen and insulin tolerance test in children and adults with Prader-Willi syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Pituitary abnormalities in Prader-Willi syndrome and early onset morbid obesity

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Endocrine disorders in children with Prader-Willi syndrome--data from 142 children of the French database

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Prevalence of, and risk factors for, physical ill-health in people with Prader-Willi syndrome: a population-based study.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Sleep cycling alternating pattern (CAP) expression is associated with hypersomnia and GH secretory pattern in Prader-Willi syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

CSF hypocretin-1 levels in narcolepsy, Kleine-Levin syndrome, and other hypersomnias and neurological conditions

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Hypocretin deficiency in Prader-Willi syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Prader-Willi syndrome: sorting out the relationships between obesity, hypersomnia, and sleep apnea

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Decrease in acetylcholinergic neurons in the pedunculopontine tegmental nucleus in a patient with Prader-Willi syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

The musculoskeletal manifestations of Prader-Willi syndrome

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Intracranial abnormalities detected by three-dimensional magnetic resonance imaging in Prader-Willi syndrome

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Neurocognitive findings in Prader-Willi syndrome and early-onset morbid obesity.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Pituitary height and neuroradiological alterations in patients with Prader-Labhart-Willi syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Mortality in Prader-Willi syndrome

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Prader-Willi syndrome: causes of death in an international series of 27 cases.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Unexpected death and critical illness in Prader-Willi syndrome: report of ten individuals

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Review of 64 cases of death in children with Prader-Willi syndrome (PWS)

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Acute idiopathic gastric dilation with gastric necrosis in individuals with Prader-Willi syndrome

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Gastric rupture and necrosis in Prader-Willi syndrome

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Deaths due to choking in Prader-Willi syndrome

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Genomic imprinting: potential function and mechanisms revealed by the Prader-Willi and Angelman syndromes

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Prader-Willi syndrome: clinical genetics, cytogenetics and molecular biology

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Genomic imprinting and imprinting defects in humans

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Mechanisms of imprint dysregulation

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Distinct phenotypes distinguish the molecular classes of Angelman syndrome

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Clinical and genetic aspects of Angelman syndrome

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Identification of Four Highly Conserved Genes between Breakpoint Hotspots BP1 and BP2 of the Prader-Willi/Angelman Syndromes Deletion Region That Have Undergone Evolutionary Transposition Mediated by Flanking Duplicons

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

An imprinted, mammalian bicistronic transcript encodes two independent proteins

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Imprinting-mutation mechanisms in Prader-Willi syndrome

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Identification of brain-specific and imprinted small nucleolar RNA genes exhibiting an unusual genomic organization

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

The IC-SNURF-SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA for UBE3A

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

The Prader-Willi syndrome imprinting center activates the paternally expressed murine Ube3a antisense transcript but represses paternal Ube3a.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Regulation of alternative splicing by snoRNAs

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Prader-Willi syndrome and Angelman syndrome

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Exclusion of the C/D box snoRNA gene cluster HBII-52 from a major role in Prader-Willi syndrome

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Deletions of chromosome 15 as a cause of the Prader-Willi syndrome

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Parental origin of chromosome 15 deletion in Prader-Willi syndrome

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

The mechanisms involved in formation of deletions and duplications of 15q11-q13.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

A family with a grand-maternally derived interstitial duplication of proximal 15q.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

A supernumerary marker chromosome 15 tetrasomic for the Prader-Willi/Angelman syndrome critical region in a patient with a severe phenotype

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Screening for genomic rearrangements and methylation abnormalities of the 15q11-q13 region in autism spectrum disorders.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Uniparental disomy and human disease: an overview.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Genotype-phenotype correlation in a series of 167 deletion and non-deletion patients with Prader-Willi syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Comparison of phenotype between patients with Prader-Willi syndrome due to deletion 15q and uniparental disomy 15

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Prader-Willi syndrome with a karyotype 47,XY,+min(15)(pter->q11.1:) and maternal UPD 15--case report plus review of similar cases

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Review and meta-analysis of systematic searches for uniparental disomy (UPD) other than UPD 15.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Epimutations in Prader-Willi and Angelman syndromes: a molecular study of 136 patients with an imprinting defect

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Are jigsaw puzzle skills 'spared' in persons with Prader-Willi syndrome?

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Intellectual characteristics of Prader-Willi syndrome: comparison of genetic subtypes.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Clinical-etiologic correlation in children with Prader-Willi syndrome (PWS): an interdisciplinary study

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Behavioural phenotypes associated with specific genetic disorders: evidence from a population-based study of people with Prader-Willi syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Prader-Willi syndrome--a study comparing deletion and uniparental disomy cases with reference to autism spectrum disorders.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Cognitive abilities and genotype in a population-based sample of people with Prader-Willi syndrome

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Behavioral differences among subjects with Prader-Willi syndrome and type I or type II deletion and maternal disomy

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Maladaptive behaviors and risk factors among the genetic subtypes of Prader-Willi syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Prader-Willi syndrome: intellectual abilities and behavioural features by genetic subtype.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Impact of molecular mechanisms, including deletion size, on Prader-Willi syndrome phenotype: study of 75 patients.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

A DNA methylation imprint, determined by the sex of the parent, distinguishes the Angelman and Prader-Willi syndromes

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Characterization of a methylation imprint in the Prader-Willi syndrome chromosome region.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

American College of Medical Genetics statement of diagnostic testing for uniparental disomy

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Molecular diagnosis of Prader-Willi and Angelman syndromes by methylation-specific melting analysis and methylation-specific multiplex ligation-dependent probe amplification

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Whole genome microarray analysis of gene expression in Prader-Willi syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Hyperphagic short stature and Prader--Willi syndrome: a comparison of behavioural phenotypes, genotypes and indices of stress.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

The neonatal presentation of Prader-Willi syndrome revisited

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Diagnostic profile of neonatal hypotonia: an 11-year study

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Maternal UPD(14) in the patient with a normal karyotype: clinical report and a systematic search for cases in samples sent for testing for Prader-Willi syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

A comprehensive team approach to the management of patients with Prader-Willi syndrome

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Recommendations for the diagnosis and management of Prader-Willi syndrome

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Prader-Willi syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

The course and outcome of psychiatric illness in people with Prader-Willi syndrome: implications for management and treatment.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

A daily comprehensive muscle training programme increases lean mass and spontaneous activity in children with Prader-Willi syndrome after 6 months.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Familial translocations involving 15q11-q13 can give rise to interstitial deletions causing Prader-Willi or Angelman syndrome

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Difficulties of genetic counseling and prenatal diagnosis in a consanguineous couple segregating for the same translocation (14;15) (q11;q13) and at risk for Prader–Willi and Angelman syndromes

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

A case with 47,XXY,del(15)(q11;q13) karyotype associated with Prader-Willi phenotype

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Klinefelter's syndrome and Prader-Willi syndrome: a rare combination

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Difference in methylation patterns within the D15S9 region of chromosome 15q11-13 in first cousins with Angelman syndrome and Prader-Willi syndrome

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Mosaic imprinting defect in a patient with an almost typical expression of the Prader-Willi syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Recurrent meiotic nondisjunction of maternal chromosome 15 in a sibship

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Validation studies of SNRPN methylation as a diagnostic test for Prader-Willi syndrome

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

DNA methylation analysis with respect to prenatal diagnosis of the Angelman and Prader-Willi syndromes and imprinting

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

Sex difference in methylation of single-copy genes in human meiotic germ cells: Implications for X chromosome inactivation, parental imprinting, and origin of CpG mutations

1 reference

https://api.crossref.org/works/10.1038%2FGIM.0B013E31822BEAD0

7 January 2021

10.1038/GIM.0B013E31822BEAD0

Identifiers

DOI

1 reference

13 April 2018

PubMed ID

22237428

1 reference

13 April 2018