(Q28263222)

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6750281&resulttype=core&format=json

12 May 2020

main subject

molecular biology

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Prader–Willi syndrome

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Douglas C Bittel

1

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6750281&resulttype=core&format=json

12 May 2020

Merlin G Butler

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6750281&resulttype=core&format=json

Expert Reviews in Molecular Medicine

12 May 2020

language of work or name

English

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publication date

25 July 2005

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published in

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6750281&resulttype=core&format=json

12 May 2020

volume

7

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6750281&resulttype=core&format=json

12 May 2020

issue

14

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6750281&resulttype=core&format=json

12 May 2020

page(s)

1-20

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6750281&resulttype=core&format=json

The latent variable structure of the Compulsive Behaviour Checklist in people with Prader-Willi syndrome

12 May 2020

cites work

1 reference

12 December 2020

Interacting appetite-regulating pathways in the hypothalamic regulation of body weight

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12 December 2020

Brain Mediation of Obsessive-Compulsive Disorder Symptoms: Evidence From Functional Brain Imaging Studies in the Human and Nonhuman Primate

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12 December 2020

Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13).

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12 December 2020

Self-injurious behavior and Prader-Willi syndrome: behavioral forms and body locations

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12 December 2020

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

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12 December 2020

Disruption of the mouse necdin gene results in early post-natal lethality

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12 December 2020

A 68-year-old white female with Prader-Willi syndrome

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12 December 2020

Prader-Willi syndrome, diabetes mellitus and hypogonadism

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12 December 2020

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

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12 December 2020

Structure of the highly conserved HERC2 gene and of multiple partially duplicated paralogs in human

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12 December 2020

Appetitive behavior, compulsivity, and neurochemistry in Prader-Willi syndrome.

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12 December 2020

Effects of growth hormone on body composition and bone metabolism

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12 December 2020

Expression and imprinting of MAGEL2 suggest a role in Prader-willi syndrome and the homologous murine imprinting phenotype.

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12 December 2020

Is there growth hormone deficiency in prader-willi Syndrome? Six arguments to support the presence of hypothalamic growth hormone deficiency in Prader-Willi syndrome

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12 December 2020

Imprinting centre deletions in two PWS families: implications for diagnostic testing and genetic counseling

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12 December 2020

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

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12 December 2020

Disruption of the mouse Necdin gene results in hypothalamic and behavioral alterations reminiscent of the human Prader-Willi syndrome.

1 reference

12 December 2020

Visual capacity and Prader-Willi syndrome

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12 December 2020

Large-scale evaluation of imprinting status in the Prader-Willi syndrome region: an imprinted direct repeat cluster resembling small nucleolar RNA genes.

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12 December 2020

Activation of metabotropic glutamate receptors inhibits GABAergic transmission in the rat subfornical organ

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12 December 2020

GABA and GABA(A) receptor antagonists alter developing cone photoreceptor development in neonatal rabbit retina.

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12 December 2020

Analysis of imprinted genes in subjects with Prader-Willi syndrome and chromosome 15 abnormalities

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12 December 2020

The role of genomic imprinting in human developmental disorders: lessons from Prader-Willi syndrome

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12 December 2020

Interrelationship between insulin, leptin and growth hormone in growth hormone-treated children

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12 December 2020

Impairment of GH responsiveness to GH-releasing hexapeptide (GHRP-6) in Prader-Willi syndrome

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12 December 2020

[Clinical aspects and genetics of Prader-Willi syndrome].

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12 December 2020

Possible dosage effect of maternally expressed genes on visual recognition memory in Prader-Willi syndrome

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12 December 2020

Kinetic form discrimination in Prader-Willi syndrome

1 reference

12 December 2020

Genome organization, function, and imprinting in Prader-Willi and Angelman syndromes

1 reference

12 December 2020

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

1 reference

12 December 2020

Endocrine dysfunction in Prader-Willi syndrome: a review with special reference to GH.

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12 December 2020

Prader-Willi syndrome: how does growth hormone affect body composition and physical function?

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12 December 2020

Resting metabolic rate, plasma leptin concentrations, leptin receptor expression, and adipose tissue measured by whole-body magnetic resonance imaging in women with Prader-Willi syndrome.

1 reference

12 December 2020

The MAGE proteins: emerging roles in cell cycle progression, apoptosis, and neurogenetic disease

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12 December 2020

Prader-Willi syndrome and a deletion/duplication within the 15q11-q13 region

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12 December 2020

Benefits of long-term GH therapy in Prader-Willi syndrome: a 4-year study

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Elevated plasma ghrelin levels in Prader–Willi syndrome

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12 December 2020

Evidence for the role of PWCR1/HBII-85 C/D box small nucleolar RNAs in Prader-Willi syndrome

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12 December 2020

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.

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12 December 2020

Imprinting and disease

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12 December 2020

Chromosome 15 maternal uniparental disomy and psychosis in Prader-Willi syndrome

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12 December 2020

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

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12 December 2020

Growth hormone therapy in the Prader-Willi syndrome.

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12 December 2020

Microarray analysis of gene/transcript expression in Prader-Willi syndrome: deletion versus UPD

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12 December 2020

Prader-Willi syndrome transcripts are expressed in phenotypically significant regions of the developing mouse brain.

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12 December 2020

NIPA1 Gene Mutations Cause Autosomal Dominant Hereditary Spastic Paraplegia (SPG6)

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12 December 2020

The paradox of Prader-Willi syndrome: a genetic model of starvation

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12 December 2020

Peptides associated with hyperphagia in adults with Prader–Willi syndrome before and during GH treatment

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12 December 2020

Expression of the Prader-Willi gene Necdin during mouse nervous system development correlates with neuronal differentiation and p75NTR expression.

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12 December 2020

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

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12 December 2020

Endocrine and metabolic aspects of adult Prader-Willi syndrome with special emphasis on the effect of growth hormone treatment

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12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

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12 December 2020

Growth hormone treatment in children: review of safety and efficacy

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12 December 2020

The pharmacology of human appetite expression.

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12 December 2020

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

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12 December 2020

GABA A receptor abnormalities in Prader-Willi syndrome assessed with positron emission tomography and [11C]flumazenil

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12 December 2020

Neurodegenerative disorders associated with diabetes mellitus

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12 December 2020

Growth hormone deficiency and related disorders: insights into causation, diagnosis, and treatment

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12 December 2020

Endocrine regulation of energy metabolism: review of pathobiochemical and clinical chemical aspects of leptin, ghrelin, adiponectin, and resistin

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12 December 2020

Ghrelin: update on a novel hormonal system

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12 December 2020

Gut hormones and the control of appetite

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12 December 2020

Serum adiponectin levels in adults with Prader-Willi syndrome are independent of anthropometrical parameters and do not change with GH treatment.

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12 December 2020

Plasma peptide YY and ghrelin levels in infants and children with Prader-Willi syndrome

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12 December 2020

Neuropeptides in hypothalamic neuronal disorders

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12 December 2020

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

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12 December 2020

Deaths in children with Prader-Willi syndrome. A contribution to the debate about the safety of growth hormone treatment in children with PWS.

1 reference

12 December 2020

Microarray analysis of gene/transcript expression in Angelman syndrome: deletion versus UPD

1 reference

12 December 2020

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

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12 December 2020

Essential role for the Prader-Willi syndrome protein necdin in axonal outgrowth

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12 December 2020

Satiety dysfunction in Prader-Willi syndrome demonstrated by fMRI.

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12 December 2020

Ghrelin, peptide YY and their receptors: gene expression in brain from subjects with and without Prader-Willi syndrome.

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12 December 2020

A nonimprinted Prader-Willi Syndrome (PWS)-region gene regulates a different chromosomal domain in trans but the imprinted pws loci do not alter genome-wide mRNA levels.

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12 December 2020

The frequency of uniparental disomy in Prader-Willi syndrome. Implications for molecular diagnosis.

1 reference

12 December 2020

Neural mechanisms underlying food motivation in children and adolescents

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12 December 2020

Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients

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12 December 2020

Parental origin of del(15)(q11-q13) in Angelman and Prader-Willi syndromes

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12 December 2020

Prader-Willi syndrome: current understanding of cause and diagnosis

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12 December 2020

Comparison of the 15q deletions in Prader-Willi and Angelman syndromes: Specific regions, extent of deletions, parental origin, and clinical consequences

1 reference

12 December 2020

Analysis of chromosome breakage in the Prader-Labhart-Willi syndrome

1 reference

12 December 2020

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

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12 December 2020

Emotional symptoms in Prader-Willi syndrome adolescents.

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12 December 2020

Clinical and cytogenetic survey of 39 individuals with Prader-Labhart-Willi syndrome

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12 December 2020

Localizing 3H-GABA in Nerve Terminals of Rat Cerebral Cortex by Electron Microscopic Autoradiography

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12 December 2020

Parental origin of chromosome 15 deletion in Prader-Willi syndrome

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12 December 2020

Prader-Willi syndrome: are there population differences?

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12 December 2020

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

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12 December 2020

Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients

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12 December 2020

GABAergic stimulation switches from enhancing to repressing BDNF expression in rat hippocampal neurons during maturation in vitro.

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12 December 2020

Differential expression of the neuroendocrine polypeptide 7B2 in hypothalami of Prader-(Labhart)-Willi syndrome patients

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12 December 2020

Prader-Willi syndrome in old age.

1 reference

12 December 2020

Identification of a novel paternally expressed gene in the Prader-Willi syndrome region

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12 December 2020

Bloom syndrome and maternal uniparental disomy for chromosome 15.

1 reference

12 December 2020

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

1 reference

12 December 2020

Serum leptin in normal-weight and obese humans.

1 reference

12 December 2020

Minimal definition of the imprinting center and fixation of chromosome 15q11-q13 epigenotype by imprinting mutations.

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12 December 2020

The IPW gene is imprinted and is not expressed in the Prader-Willi syndrome

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12 December 2020

Respiratory sinus arrhythmia in patients with Prader-Willi syndrome.

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12 December 2020

Comparison of phenotype in uniparental disomy and deletion Prader-Willi syndrome: sex specific differences.

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12 December 2020

Relation between plasma leptin concentration and body fat, gender, diet, age, and metabolic covariates.

1 reference

12 December 2020

Elevated plasma gamma-aminobutyric acid (GABA) levels in individuals with either Prader-Willi syndrome or Angelman syndrome.

1 reference

12 December 2020

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

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12 December 2020

An imprinted mouse transcript homologous to the human imprinted in Prader-Willi syndrome (IPW) gene.

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12 December 2020

Obsessions and compulsions in Prader-Willi syndrome.

1 reference

12 December 2020

Heterogeneity in the neuropeptide Y-containing neurons of the rat arcuate nucleus: GABAergic and non-GABAergic subpopulations.

1 reference

12 December 2020

Delayed diagnosis in patients with Prader-Willi syndrome due to maternal uniparental disomy 15

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12 December 2020

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

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12 December 2020

Prader-Willi syndrome

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12 December 2020

Prader-Willi syndrome and the hypothalamus

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12 December 2020

Comparison of leptin protein levels in Prader-Willi syndrome and control individuals.

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12 December 2020

Attenuation of the polypeptide 7B2, prohormone convertase PC2, and vasopressin in the hypothalamus of some Prader-Willi patients: indications for a processing defect.

1 reference

12 December 2020

Maternal meiosis I non-disjunction of chromosome 15: dependence of the maternal age effect on level of recombination

1 reference

12 December 2020

A.E. Bennett Research Award. Toward a neurodevelopmental model of of obsessive--compulsive disorder.

1 reference

12 December 2020

Imprinted genes in the Prader-Willi deletion.

1 reference

12 December 2020

Reduced growth hormone (GH) responsiveness to combined GH-releasing hormone and pyridostigmine administration in the Prader-Willi syndrome

1 reference

12 December 2020

Expressed copies of the MN7 (D15F37) gene family map close to the common deletion breakpoints in the Prader-Willi/Angelman syndromes.

1 reference

12 December 2020

Genetic variants of the human obesity (OB) gene in subjects with and without Prader-Willi syndrome: comparison with body mass index and weight.

1 reference

12 December 2020

Cerebrospinal fluid levels of oxytocin in Prader-Willi syndrome: a preliminary report.

1 reference

12 December 2020

Growth hormone improves body composition, fat utilization, physical strength and agility, and growth in Prader-Willi syndrome: A controlled study

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12 December 2020

The ancestral gene for transcribed, low-copy repeats in the Prader-Willi/Angelman region encodes a large protein implicated in protein trafficking, which is deficient in mice with neuromuscular and spermiogenic abnormalities

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12 December 2020

Imprinting-mutation mechanisms in Prader-Willi syndrome

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12 December 2020

10.1017/S1462399405009531

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6750281&resulttype=core&format=json

12 May 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6750281&resulttype=core&format=json

12 May 2020

1 reference