Results 71 to 80 of about 1,183,898 (170)

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2181-2198, October 2026.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

Prader-Willi syndrome: are there population differences?

, 1982
A 15 1/2-year-old black female with features consistent with the Prader-Willi syndrome is reported. This is the second case report of a black individual and the first case of a black female with the Prader-Willi syndrome.
Butler, Merlin G., Weaver, David D., Meaney, F. John   +2 more
core   +1 more source

The effects of Bifidobacterium animalis ssp. lactis B94 on gastrointestinal wellness in adults with Prader–Willi syndrome: study protocol for a randomized controlled trial

Trials, 2018
Background Constipation is a frequent problem in adults with Prader–Willi syndrome. Certain probiotics have been shown to improve transit and gastrointestinal symptoms of adults with functional constipation.
Zainab Alyousif, Jennifer L. Miller, Mariana Y. Sandoval, Chad W. MacPherson, Varuni Nagulesapillai, Wendy J. Dahl   +5 more
doaj   +1 more source

Challenges in Diagnosing Central Adrenal Insufficiency in Children: Cortisol‐Stimulating Tests are Safe and Often Required

Clinical Endocrinology, Volume 105, Issue 4, Page 408-415, October 2026.
ABSTRACT Introduction The accuracy and safety of cortisol‐stimulating tests (CSTs) for assessing hypothalamic–pituitary–adrenal (HPA) axis integrity, including the diagnosis of central adrenal insufficiency (CAI), in children remain uncertain. Although these tests can simultaneously evaluate cortisol and growth hormone secretion, the present study ...
Mariana Peduti Halah, Ana Carolina Maia Teodózio, Davi Casale Aragon, Paula Conde Lamparelli Elias, Margaret de Castro, Ayrton Custodio Moreira, Sonir Rauber Antonini   +6 more
wiley   +1 more source

IMPROVE 2025: The 3rd International Meeting on Pathway‐Related Obesity: Vision & Evidence

Clinical Obesity, Volume 16, Issue 5, October 2026.
ABSTRACT An international cohort of 161 clinicians and researchers from 19 countries attended the 3rd International Meeting on Pathway‐Related Obesity: Vision & Evidence (IMPROVE) in Prague, Czech Republic, on 2–4 July 2025. The aims of the meeting were to advance understanding of hyperphagia and obesity caused by defects in the melanocortin‐4 receptor
Jesús Argente, Erica L. T. van den Akker, Metin Cetiner, Karine Clément, Elizabeth Forsythe, Alastair Garfield, Peter Kühnen, Gabriel Ángel Martos‐Moreno, David Meeker, Hermann L. Müller, Hanneke M. van Santen, Julia von Schnurbein, Bérénice Segrestin, Tomohiro Tanaka, Manuel Tena‐Sempere, Martin Wabitsch, Stefanie Zorn, I. Sadaf Farooqi   +17 more
wiley   +1 more source

A clinical follow-up of 35 Brazilian patients with Prader-Willi Syndrome

Clinics, 2012
OBJECTIVE: Prader-Willi Syndrome is a common etiology of syndromic obesity that is typically caused by either a paternal microdeletion of a region in chromosome 15 (microdeletions) or a maternal uniparental disomy of this chromosome.
Caio Robledo D'Angioli Costa Quaio, Tatiana Ferreira de Almeida, Lilian Maria José Albano, Israel Gomy, Debora Romeo Bertola, Monica Castro Varela, Celia P. Koiffmann, Chong Ae Kim   +7 more
doaj   +1 more source

PRADER-WILLI SYNDROME AND DEVELOPMENTAL TRAJECTORIES: ANALYSIS OF A CLINICAL CASE [PDF]

openLa sindrome di Prader-Willi rappresenta una condizione genetica rara, ma significativa, che colpisce circa un individuo su 15-30.000 e si caratterizza per una complessa presentazione clinica che coinvolge diversi aspetti del funzionamento fisico ...
PROFUMO, MADDALENA
core  

Developmental stuttering with common and complex phenotypes

Developmental Medicine &Child Neurology, Volume 68, Issue 10, Page 1460-1475, October 2026.
Abstract Aim To describe the phenotypic spectrum associated with stuttering. Method Individuals with current or resolved developmental stuttering self‐referred. Surveys assessed stuttering characteristics (onset, negative impact, family history) and health (early development, other conditions).
Sarah E. Horton, Daisy A. Shepherd, Stephanie Siemers, Miya St John, Juliette Catherall, Ingrid E. Scheffer, Angela T. Morgan   +6 more
wiley   +1 more source

Periodontal disease in a patient with Prader-Willi syndrome: a case report

Journal of Medical Case Reports, 2011
Introduction Prader-Willi syndrome is a complex genetic disease caused by lack of expression of paternally inherited genes on chromosome 15q11-q13. The prevalence of Prader-Willi syndrome is estimated to be one in 10,000 to 25,000.
Kitamura Masahiro, Yamada Satoru, Nozaki Takenori, Kobashi Mariko, Hirano Hiroyuki, Yanagita Manabu, Murakami Shinya   +6 more
doaj   +1 more source

Elsődleges genetikai vizsgálat Prader–Willi-szindróma igazolására = Rapid first-tier genetic diagnosis in patients with Prader–Willi syndrome [PDF]

, 2018
Absztrakt: Bevezetés: A nemzetközi szakirodalmi adatok alapján az SNRPN génlocus promoter régiójának DNS-metilációs vizsgálata jelenleg a legérzékenyebb és leghatékonyabb kezdeti lépés a
Buiting, Karin, Sallai, Ágnes, Dóra Török, Buiting K, Péter Hollósi, Fekete, György, Haltrich, Irén, Bálint Péterfia, Andrea Luczay, Szabó, András, Horsthemke B, Karin Buiting, György Fekete, Ács, Orsolya Dóra, Luczay, Andrea, Török, Dóra, Ágnes Sallai, Orsolya Dóra Ács, Bernhard Horsthemke, András Szabó, Péterfia, Bálint, Horsthemke, Bernhard, Hollósi, Péter, Irén Haltrich   +23 more
core   +1 more source