Works matching DE "PRADER-Willi syndrome diagnosis"

Results: 50

Delay in diagnosis of a Prader-Willi Syndrome, until the age of ten: a case report.

Published in:

2013

By:

Poyraz Findik, Onur Tugce;
Benk, Fatma;
Fis, Nese Perdahli;
Arman, Ayse Rodopman

Publication type:

Abstract

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.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 3, p. 181, doi. 10.1038/sj.ejhg.5201134

By:

Flori, Elisabeth;
Biancalana, Valérie;
Girard-Lemaire, Françoise;
Favre, Romain;
Flori, Jean;
Doray, Bérénice;
Mandel, Jean Louis

Publication type:

Article

PRADER-WILLI SYNDROME IDENTIFIED BY METHYLATION SPECIFIC MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION (MS-MLPA).

Published in:

Romanian Journal of Pediatrics / Revista Romana de Pediatrie, 2017, v. 66, n. 4, p. 248

By:

Vasilache, Simona Loredana;
Micheu, Adelina;
Banescu, Claudia;
Moldovan, Valeriu;
Duicu, Carmen;
Pascanu, Ionela Maria;
Marginean, Oana

Publication type:

Article

Prader-Willi syndrome -- case report.

Published in:

Romanian Journal of Pediatrics / Revista Romana de Pediatrie, 2013, v. 62, n. 2, p. 207

By:

Busila, Camelia;
Niculescu, Carmen;
Gusa, Maricica;
Dobre, Michaela;
Nechita, A.

Publication type:

Article

SINDROMUL PRADER-WILLI -- PREZENTARE DE CAZ.

Published in:

Romanian Journal of Pediatrics / Revista Romana de Pediatrie, 2013, v. 62, n. 2, p. 204

By:

Buşilă, Camelia;
Niculescu, Carmen;
Guşă, Maricica;
Dobre, Michaela;
Nechita, A.

Publication type:

Article

Diagnostic and prognostic problems with the Prader-Willi syndrome.

Published in:

Baylor University Medical Center Proceedings, 2019, v. 32, n. 1, p. 167, doi. 10.1080/08998280.2018.1542477

By:

Kopel, Jonathan

Publication type:

Article

Recommendations for the diagnosis and management of Prader-Willi syndrome.

Published in:

2008

By:

Goldstone, A P;
Holland, A J;
Hauffa, B P;
Hokken-Koelega, A C;
Tauber, M;
speakers contributors at the Second Expert Meeting of the Comprehensive Care of Patients with PWS

Publication type:

journal article

Diagnosis of the Genomic Imprinting Diseases by the Usage of Conventional and Molecular Analyses.

Published in:

Gazi Medical Journal, 2017, v. 28, n. 3, p. 200, doi. 10.12996/gmj.2017.58

By:

Kaymak, Ayşegül Öztürk;
Karaoğuz, Meral Yirmibeş;
Gücüyener, Kıvılcım;
Perçin, Ferda Emriye

Publication type:

Article

Inpatient hospitalisations for patients with Prader–Willi syndrome: a 2019–2021 National Inpatient Sample analysis.

Published in:

Journal of Intellectual Disability Research, 2025, v. 69, n. 1, p. 79, doi. 10.1111/jir.13194

By:

Luccarelli, J.;
Strong, T. V.;
McCoy, T. H.

Publication type:

Article

Effectiveness of the Kaufman Brief Intelligence Test in people with Prader–Willi syndrome.

Published in:

Journal of Intellectual Disability Research, 2024, v. 68, n. 1, p. 45, doi. 10.1111/jir.13090

By:

Jaime, M. P.;
Gerk, A.;
Stegmann, J.

Publication type:

Article

PRADER WILLI LIKE SYNDROME - THE NEW MEDICAL CHALLENGE.

Published in:

Jurnalul Pediatrului, 2014, v. 17, n. 67/68, p. 20

By:

Dobrescu, Andreea-Iulia;
Cosma, Mírela;
Andreescu, Nicoleta;
Farcaş, Simona;
Ştefănescu, Radu;
Puiu, Maria

Publication type:

Article

Good cognitive performances in a child with Prader-Willi syndrome.

Published in:

Italian Journal of Pediatrics, 2013, v. 39, n. 1, p. 74, doi. 10.1186/1824-7288-39-74

By:

Nugnes, Rosa;
Zito, Eugenio;
Mozzillo, Enza;
Camarca, Maria Erminia;
Riccio, Maria Pia;
Terrone, Gaetano;
Melis, Daniela;
Bravaccio, Carmela;
Franzese, Adriana

Publication type:

Article

Prader-Willi Syndrome - Clinical Genetics, Diagnosis and Treatment Approaches: An Update.

Published in:

Current Pediatric Reviews, 2019, v. 15, n. 4, p. 207, doi. 10.2174/1573396315666190716120925

By:

Butler, Merlin G.;
Miller, Jennifer L.;
Forster, Janice L.

Publication type:

Article

Cognitive Improvements in Children with Prader-Willi Syndrome Following Pitolisant Treatment--Patient Reports.

Published in:

Journal of Pediatric Pharmacology & Therapeutics, 2019, v. 24, n. 2, p. 166, doi. 10.5863/1551-6776-24.2.166

By:

Pullen, Lara C.;
Picone, Maria;
Tan, Litjen;
Johnston, Charles;
Stark, Holger

Publication type:

Article

Prader‐Willi syndrome genetic subtypes and clinical neuropsychiatric diagnoses in residential care adults.

Published in:

Clinical Genetics, 2018, v. 93, n. 3, p. 622, doi. 10.1111/cge.13142

By:

Manzardo, A. M.;
Weisensel, N.;
Ayala, S.;
Hossain, W.;
Butler, M. G.

Publication type:

Article

Genetic Corner: Two Different Unbalanced Translocations of 15q and 21q in Dizygotic Twins Presenting with Differing Phenotypes.

Published in:

Neonatology Today, 2023, v. 18, n. 8, p. 149

By:

Mueller, Andrew;
Muchmore, Skylar;
Gold, June-Anne

Publication type:

Article

The associations between diet and physical activity with body composition and walking a timed distance in adults with Prader--Willi syndrome.

Published in:

Food & Nutrition Research, 2018, v. 62, p. 1, doi. 10.29219/fnr.v62.1343

By:

Woods, Susan G.;
Knehans, Allen;
Hoffman, Leah;
Turner, Peggy;
Arnold, Sandra;
Dionne, Carol;
Baldwin, Jonathan

Publication type:

Article

Excessive Picking in Prader-Willi Syndrome: a pilot study of phenomenological aspects and comorbid symptoms.

Published in:

International Journal of Disability, Development & Education, 2001, v. 48, n. 2, p. 129, doi. 10.1080/10349120120053621

By:

Wigren, Margareta;
Heimann, Mikael

Publication type:

Article

Prader-Willi Syndrome: Background and Management.

Published in:

Neonatal Network, 2017, v. 36, n. 3, p. 134, doi. 10.1891/0730-0832.36.3.134

By:

Abdilla, Ylenia;
Barbara, Maria Andria;
Calleja-Agius, Jean

Publication type:

Article

A case of tricuspid atresia with Prader‐Willi syndrome.

Published in:

2020

By:

Abe, Jiro;
Takeda, Atsuhito;
Saitoh, Shinji

Publication type:

Case Study

Mosaic trisomy 15 and prenatal genetic counselling: a case of Prader-Willi syndrome due to maternal uniparental disomy.

Published in:

Case Reports in Perinatal Medicine, 2019, v. 8, n. 1, p. N.PAG, doi. 10.1515/crpm-2018-0028

By:

Aparicio, Mar Velilla;
Seidel, Veronica;
Orera Clemente, Maria Asunción;
Caballero, Sylvia Marina;
Luna, Manuel Sánchez

Publication type:

Article

Early diagnosis and care is achieved but should be improved in infants with Prader-Willi syndrome.

Published in:

2017

By:

Bar, Céline;
Diene, Gwenaelle;
Molinas, Catherine;
Bieth, Eric;
Casper, Charlotte;
Tauber, Maithé

Publication type:

journal article

PET scan perfusion imaging in the Prader-Willi syndrome: new insights into the psychiatric and social disturbances.

Published in:

Journal of Cerebral Blood Flow & Metabolism, 2011, v. 31, n. 1, p. 275, doi. 10.1038/jcbfm.2010.87

By:

Mantoulan, Carine;
Payoux, Pierre;
Diene, Gwenaëlle;
Glattard, Mélanie;
Rogé, Bernadette;
Molinas, Catherine;
Sevely, Annick;
Zilbovicius, Monica;
Celsis, Pierre;
Tauber, Maïthé

Publication type:

Article

New Features for Child Metrics: Further Growth References and Blood Pressure Calculations.

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2020, v. 12, n. 2, p. 125, doi. 10.4274/jcrpe.galenos.2019.2019.0127

By:

Demir, Korcan;
Konakçı, Ergun;
Özkaya, Güven;
Demir, Belde Kasap;
Özen, Samim;
Aydın, Murat;
Darendeliler, Feyza

Publication type:

Article

Neonatal Features of the Prader-Willi Syndrome; The Case for Making the Diagnosis During the First Week of Life.

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2018, v. 10, n. 3, p. 264, doi. 10.4274/jcrpe.0029

By:

Çizmecioğlu, Filiz Mine;
Jones, Jeremy Huw;
Paterson, Wendy Forsyth;
Kherra, Sakina;
Kourime, Mariam;
McGowan, Ruth;
Shaikh, M. Guftar;
Donaldson, Malcolm

Publication type:

Article

6q16.3q23.3 duplication associated with Prader-Willi-like syndrome.

Published in:

Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0151-6

By:

Desch, Laurent;
Marle, Nathalie;
Mosca-Boidron, Anne-Laure;
Faivre, Laurence;
Eliade, Marie;
Payet, Muriel;
Ragon, Clemence;
Thevenon, Julien;
Aral, Bernard;
Ragot, Sylviane;
Ardalan, Azarnouche;
Dhouibi, Nabila;
Bensignor, Candace;
Thauvin-Robinet, Christel;
Chehadeh, Salima El;
Callier, Patrick

Publication type:

Article

The diagnosis of Prader-Willi syndrome.

Published in:

1999

By:

Smith;
Smith, A

Publication type:

journal article

Identifying and treating catatonia in children with neurodevelopmental disorders: A case series.

Published in:

Journal of the Canadian Academy of Child & Adolescent Psychiatry, 2024, v. 33, n. 3, p. 215

By:

Nejati, Nadine;
Etches, Selene

Publication type:

Article

BDV Syndrome: An Emerging Syndrome With Profound Obesity and Neurodevelopmental Delay Resembling Prader-Willi Syndrome.

Published in:

2021

By:

Bosch, Elisabeth;
Hebebrand, Moritz;
Popp, Bernt;
Penger, Theresa;
Behring, Bettina;
Cox, Helen;
Towner, Shelley;
Kraus, Cornelia;
Wilson, William G.;
Khan, Shagufta;
Krumbiegel, Mandy;
Ekici, Arif B.;
Uebe, Steffen;
Trollmann, Regina;
Woelfle, Joachim;
Reis, André;
Vasileiou, Georgia

Publication type:

journal article

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

Published in:

2020

By:

Meader, Brooke N.;
Albano, Alessandro;
Sekizkardes, Hilal;
Delaney, Angela

Publication type:

journal article

Copy number variation analysis in 189 Romanian patients with global developmental delay/intellectual disability.

Published in:

Italian Journal of Pediatrics, 2022, v. 48, n. 1, p. 1, doi. 10.1186/s13052-022-01397-1

By:

Miclea, Diana;
Osan, Sergiu;
Bucerzan, Simona;
Stefan, Delia;
Popp, Radu;
Mager, Monica;
Puiu, Maria;
Zimbru, Cristian;
Chirita-Emandi, Adela;
Alkhzouz, Camelia

Publication type:

Article

Thyroid function in children with Prader-Willi syndrome in Southern China: a single-center retrospective case series.

Published in:

2022

By:

Huang, Xinjiang;
Yin, Xi;
Wu, Dongyan;
Cai, Yanna;
Li, Xiuzhen;
Zhang, Wen;
Zeng, Chunhua;
Mao, Xiaojian;
Liu, Li

Publication type:

journal article

Non- Alcoholic Fatty Liver Disease ( NAFLD) in children and adolescents with Prader- Willi Syndrome ( PWS).

Published in:

Pediatric Obesity, 2016, v. 11, n. 3, p. 235, doi. 10.1111/ijpo.12052

By:

Fintini, D.;
Inzaghi, E.;
Colajacomo, M.;
Bocchini, S.;
Grugni, G.;
Brufani, C.;
Cappa, M.;
Nobili, V.;
Cianfarani, S.;
Crinò, A.

Publication type:

Article

Growth hormone treatment increases CO(2) response, ventilation and central inspiratory drive in children with Prader-Willi syndrome.

Published in:

1999

By:

Lindgren, A C;
Hellström, L G;
Ritzén, E M;
Milerad, J

Publication type:

journal article

Abnormal ventilatory responses in patients with Prader-Willi syndrome.

Published in:

1999

By:

Menendez, A. A.

Publication type:

journal article

Effects of Adiposity and Prader-Willi Syndrome on Postexercise Heart Rate Recovery.

Published in:

Journal of Obesity, 2013, v. 2013, p. 1, doi. 10.1155/2013/384167

By:

Castner, Diobel M.;
Rubin, Daniela A.;
Judelson, Daniel A.;
Haqq, Andrea M.

Publication type:

Article

Prader-Willi Syndrome: Clinical Aspects.

Published in:

Journal of Obesity, 2012, v. 2012, p. 1, doi. 10.1155/2012/473941

By:

Elena, Grechi;
Bruna, Cammarata;
Benedetta, Mariani;
Stefania, Di Candia;
Giuseppe, Chiumello

Publication type:

Article

A modified MS-PCR approach to diagnose patients with Prader-Willi and Angelman syndrome.

Published in:

Molecular Biology Reports, 2016, v. 43, n. 11, p. 1221, doi. 10.1007/s11033-016-4055-2

By:

Santos, Jéssica;
Mota, Laís;
Rocha, Pedro;
Ferreira de Lima, Renata

Publication type:

Article

Clinical Application of an Innovative Multiplex-Fluorescent-Labeled STRs Assay for Prader-Willi Syndrome and Angelman Syndrome.

Published in:

PLoS ONE, 2016, v. 11, n. 2, p. 1, doi. 10.1371/journal.pone.0147824

By:

Zhang, Kaihui;
Liu, Shu;
Feng, Bing;
Yang, Yali;
Zhang, Haiyan;
Dong, Rui;
Liu, Yi;
Gai, Zhongtao

Publication type:

Article

Obstructive Sleep Apnea Syndrome in Prader-Willi Syndrome: An Unrecognized and Untreated Cause of Cognitive and Behavioral Deficits?

Published in:

Neuropsychology Review, 2006, v. 16, n. 3, p. 123, doi. 10.1007/s11065-006-9010-x

By:

Camfferman, Danny;
Lushington, Kurt;
O'Donoghue, Fergal;
McEvoy, R. Doug

Publication type:

Article

Case report: severe asymptomatic hyponatremia in Prader-Willi Syndrome.

Published in:

2016

By:

Landau, Daniel;
Hirsch, Harry J.;
Gross-Tsur, Varda

Publication type:

journal article

Symptoms of ASD in children with Prader-Willi syndrome.

Published in:: Brown University Child & Adolescent Behavior Letter, 2013, v. 29, n. 9, p. 3
Publication type:: Article

ДІАГНОСТИКА ВРОДЖЕНОЇ ПАТОЛОГІЇ У ПРАКТИЦІ СІМЕЙНОГО ЛІКАРЯ

Published in:

Likarska Sprava, 2018, n. 3/4, p. 115, doi. 10.31640/3-4.2018(17)

By:

ЛИСУНЕЦЬ, О. В.;
ДІДИК, Н. В.

Publication type:

Article

Growth hormone treatment of children with Prader-Willi syndrome affects linear growth and body composition favourably.

Published in:

1998

By:

Lindgren, A. C.;
Hagenäs, L.;
Müller, J.;
Blichfeldt, S.;
Rosenborg, M.;
Brismar, T.;
Ritzén, E. M.;
Hagenäs, L;
Müller, J;
Ritzén, E M

Publication type:

journal article

Care of the Patient With Prader-Willi Syndrome.

Published in:

MEDSURG Nursing, 2011, v. 20, n. 3, p. 113

By:

Yearwood, Edilma L.;
McCulloch, Myrtle R.;
Tucker, Michelle L.;
Riley, Joan B.

Publication type:

Article

Noninvasive prenatal testing suggesting an abnormality in chromosome 15 confirmed to be a case of Prader–Willi syndrome caused by trisomy rescue in the neonatal period.

Published in:

Journal of Obstetrics & Gynaecology Research, 2022, v. 48, n. 8, p. 2214, doi. 10.1111/jog.15236

By:

Okuda, Tomohiro;
Moroto, Masaharu;
Yamamoto, Toshiyuki

Publication type:

Article

British Association of Dermatologists Dermatology and Genetic Medicine (BADGEM).

Published in:: 2017
Publication type:: Abstract

Effectiveness of Adenotonsillectomy and Risk of Velopharyngeal Insufficiency in Children With Prader-Willi Syndrome.

Published in:

Annals of Otology, Rhinology & Laryngology, 2017, v. 126, n. 11, p. 733, doi. 10.1177/0003489417729834

By:

Padia, Reema;
Muntz, Harlan;
Pfeffer, Kathleen;
Meier, Jeremy

Publication type:

Article

Congenital hypothyroidism due to ectopic sublingual thyroid gland in Prader-Willi Syndrome: a case report.

Published in:

Italian Journal of Pediatrics, 2017, v. 43, p. 1, doi. 10.1186/s13052-017-0403-7

By:

Bocchini, Sarah;
Fintini, Danilo;
Grugni, Graziano;
Boiani, Arianna;
Convertino, Alessio;
Crinò, Antonino

Publication type:

Article

Molecular breakpoint cloning and gene expression studies of a novel translocation t(4;15)(q27;q11.2) associated with Prader-Willi syndrome.

Published in:

BMC Medical Genetics, 2005, v. 6, p. 18, doi. 10.1186/1471-2350-6-18

By:

Schile, Birgitt;
Albalwi, Mohammed;
Northrop, Emma;
Francis, David I;
Rowell, Margaret;
Slater, Howard R;
Gardner, RJ McKinlay;
Francke, Uta

Publication type:

Article