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The presentation, course and outcome of COVID-19 infection in people with Prader-Willi syndrome: unexpected findings from an international survey

Orphanet journal of rare diseases, 2022-02, Vol.17 (1), p.69-69, Article 69

2022

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Distinct phenotypes distinguish the molecular classes of Angelman syndrome

Journal of medical genetics, 2001-12, Vol.38 (12), p.834-845

2001

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Biomedicine and diseases: the Klippel-Trenaunay syndrome, vascular anomalies and vascular morphogenesis

Cellular and molecular life sciences : CMLS, 2005-07, Vol.62 (13), p.1434-1447

2005

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A Maternally Methylated CpG Island in KvLQT1 Is Associated with an Antisense Paternal Transcript and Loss of Imprinting in Beckwith-Wiedemann Syndrome

Proceedings of the National Academy of Sciences - PNAS, 1999-07, Vol.96 (14), p.8064-8069

1999

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Satiety dysfunction in Prader-Willi syndrome demonstrated by fMRI

Journal of neurology, neurosurgery and psychiatry, 2005-02, Vol.76 (2), p.260-262

2005

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Klippel-Trenaunay Syndrome: Incidence and Treatment of Genitourinary Sequelae

The Journal of urology, 2007-04, Vol.177 (4), p.1244-1249

2007

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Imprinting-Mutation Mechanisms in Prader-Willi Syndrome

American journal of human genetics, 1999-02, Vol.64 (2), p.397-413

1999

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A Novel Imprinted Gene, Encoding a RING Zinc-Finger Protein, and Overlapping Antisense Transcript in the Prader-Willi Syndrome Critical Region

Human molecular genetics, 1999-05, Vol.8 (5), p.783-793

1999

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Klippel-Trénaunay Syndrome: Spectrum and Management

Mayo Clinic proceedings, 1998-01, Vol.73 (1), p.28-36

1998

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Protein-losing enteropathy after the Fontan operation

The Journal of thoracic and cardiovascular surgery, 1996-09, Vol.112 (3), p.672-680

1996

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Klippel–Trenaunay syndrome: current management

Phlebology, 2007-12, Vol.22 (6), p.291-298

2007

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Secondary organic aerosol formation from the oxidation of aromatic hydrocarbons in the presence of dry submicron ammonium sulfate aerosol

Atmospheric environment (1994), 1999-09, Vol.33 (22), p.3669-3681

1999

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Cardiovascular preparticipation screening of competitive athletes : A statement for health professionals from the Sudden Death Committee (clinical cardiology) and Congenital Cardiac Defects Committee (cardiovascular disease in the young), American Heart Association

Circulation (New York, N.Y.), 1996-08, Vol.94 (4), p.850-856

1996

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Chromosome Breakage in the Prader-Willi and Angelman Syndromes Involves Recombination between Large, Transcribed Repeats at Proximal and Distal Breakpoints

American journal of human genetics, 1999-08, Vol.65 (2), p.370-386

1999

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Skin‐Related complications of Klippel–Trenaunay Syndrome: a retrospective review of 410 patients

Journal of the European Academy of Dermatology and Venereology, 2021-02, Vol.35 (2), p.517-522

2021

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Long-term results of the Fontan operation

Pediatric cardiology, 2007-11, Vol.28 (6), p.438-442

Driscoll, D J

2007

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Task Force 2: special health care needs of adults with congenital heart disease

Journal of the American College of Cardiology, 2001-04, Vol.37 (5), p.1176-1183

2001

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Progression of familial and non-familial dilated cardiomyopathy: long term follow up

British heart journal, 2003-07, Vol.89 (7), p.757-761

2003

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Allele-specific replication timing of imprinted gene regions

Nature (London), 1993-07, Vol.364 (6436), p.459-463

1993

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Imprinting of a RING Zinc-Finger Encoding Gene in the Mouse Chromosome Region Homologous to the Prader-Willi Syndrome Genetic Region

Human molecular genetics, 1999-05, Vol.8 (5), p.795-803

1999

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Syncope in Children and Adolescents

Journal of the American College of Cardiology, 1997-04, Vol.29 (5), p.1039-1045

1997

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Gene structure, DNA methylation, and imprinted expression of the human SNRPN gene

American journal of human genetics, 1996-02, Vol.58 (2), p.335-346

1996

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A reduced-energy intake, well-balanced diet improves weight control in children with Prader-Willi syndrome

Journal of human nutrition and dietetics, 2013-02, Vol.26 (1), p.2-9

2013

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Five- to fifteen-year follow-up after fontan operation

Circulation (New York, N.Y.), 1992-02, Vol.85 (2), p.469-496

1992

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Characterization of cis- and trans-acting elements in the imprinted human SNURF-SNRPN locus

Nucleic acids research, 2005-01, Vol.33 (15), p.4740-4753

2005

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The presentation, course and outcome of COVID-19 infection in people with Prader-Willi syndrome: unexpected findings from an international survey

Distinct phenotypes distinguish the molecular classes of Angelman syndrome

Biomedicine and diseases: the Klippel-Trenaunay syndrome, vascular anomalies and vascular morphogenesis

A Maternally Methylated CpG Island in KvLQT1 Is Associated with an Antisense Paternal Transcript and Loss of Imprinting in Beckwith-Wiedemann Syndrome

Satiety dysfunction in Prader-Willi syndrome demonstrated by fMRI

Klippel-Trenaunay Syndrome: Incidence and Treatment of Genitourinary Sequelae

Imprinting-Mutation Mechanisms in Prader-Willi Syndrome

A Novel Imprinted Gene, Encoding a RING Zinc-Finger Protein, and Overlapping Antisense Transcript in the Prader-Willi Syndrome Critical Region

Klippel-Trénaunay Syndrome: Spectrum and Management

Protein-losing enteropathy after the Fontan operation

Klippel–Trenaunay syndrome: current management

Secondary organic aerosol formation from the oxidation of aromatic hydrocarbons in the presence of dry submicron ammonium sulfate aerosol

Cardiovascular preparticipation screening of competitive athletes : A statement for health professionals from the Sudden Death Committee (clinical cardiology) and Congenital Cardiac Defects Committee (cardiovascular disease in the young), American Heart Association

Chromosome Breakage in the Prader-Willi and Angelman Syndromes Involves Recombination between Large, Transcribed Repeats at Proximal and Distal Breakpoints

Skin‐Related complications of Klippel–Trenaunay Syndrome: a retrospective review of 410 patients

Long-term results of the Fontan operation

Task Force 2: special health care needs of adults with congenital heart disease

Progression of familial and non-familial dilated cardiomyopathy: long term follow up

Allele-specific replication timing of imprinted gene regions

Imprinting of a RING Zinc-Finger Encoding Gene in the Mouse Chromosome Region Homologous to the Prader-Willi Syndrome Genetic Region

Syncope in Children and Adolescents

Gene structure, DNA methylation, and imprinted expression of the human SNRPN gene

A reduced-energy intake, well-balanced diet improves weight control in children with Prader-Willi syndrome

Five- to fifteen-year follow-up after fontan operation

Characterization of cis- and trans-acting elements in the imprinted human SNURF-SNRPN locus

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