Results 141 to 150 of about 130,920 (262)

Pediatric Dental Management of a Patient With Infantile Osteopetrosis in Remission: A Clinical Case Report. [PDF]

Case Rep Dent
Cruz-Morera MA, Molina-Chaves K, Gomez-Fernandez A.   +2 more
europepmc   +1 more source

Spectrum of Hypogonadism and Its Management in Adolescents With Prader‐Willi Syndrome: A Retrospective Cohort Study Over 35 Years

Clinical Endocrinology, EarlyView.
ABSTRACT Context Adult data indicate that hypogonadism is underdiagnosed and undertreated in Prader‐Willi Syndrome (PWS). Objectives We aimed to describe the spectrum of pubertal development, and the diagnosis and treatment of hypogonadism in paediatric/adolescent patients with PWS. Design/Patients A retrospective cohort study of patients with PWS aged
Helen Nguyen, Geoffrey Ambler, Yoon Hi Cho   +2 more
wiley   +1 more source

Abdominal Cocoon Syndrome With Greater Omental Hypoplasia: A Rare Anatomical Insight and Diagnostic Challenge. [PDF]

Clin Case Rep
Sayyadi S, Shabankhani K, Sargazi Moghaddam MM, Sakhaei SM, Alvandipour M, Ghaffari Hamedani SMM, Farsavian H, Najafi MJ.   +7 more
europepmc   +1 more source

Expanding the Phenotypic Spectrum Associated With Loss‐of‐Function SMARCA4 Variants to Eye Developmental Anomalies

Clinical Genetics, EarlyView.
This study expands the clinical spectrum of SMARCA4 by describing a novel phenotype in three unrelated individuals with truncating variants. Distinct from Coffin–Siris syndrome and rhabdoid tumor predisposition, this new association is characterized by ocular malformations, specifically microphthalmia and coloboma.
Bertrand Chesneau, Marjolaine Willems, Abdelhakim Bouazzaoui, Léopoldine Lequeux, Julie Plaisancié, Salima El Chehadeh, Hélène Dollfus, Nicolas Chassaing   +7 more
wiley   +1 more source

Genetic analysis of disqualifying traits in Nellore cattle. [PDF]

Trop Anim Health Prod
Salgado FR, Evangelista AF, Sesana JC, de Almeida Teixeira R, Dias LT.   +4 more
europepmc   +1 more source

Enamel Defects in Carriers of a Novel LAMA3 Mutation Underlying Epidermolysis Bullosa [PDF]

, 2012
Jonkman, MF, Pasmooij, AM, Stellingsma, C, Yuen, WY   +3 more
core   +2 more sources

Unilateral pulmonary hypoplasia [PDF]

Respiratory Medicine, 2019
openaire   +2 more sources

Craniofacial Dysmorphology Associated With Phelan–McDermid Syndrome Using Three‐Dimensional Morphometrics

Clinical Genetics, EarlyView.
Using 3D morphometrics quantifies genetic contribution to head and face development. ABSTRACT Phelan–McDermid syndrome (PMS) frequently presents with distinctive facial features, although a typical facial phenotype for this condition has not been well characterized.
Katherine Weisensee, Sara M. Sarasua, Lior Rennert, Curtis Rogers, Katy Phelan, Kara Powder, Luigi Boccuto   +6 more
wiley   +1 more source

Exploring the Impact of RNU4‐2 Defects on Neurodevelopmental Disorders in a Korean Population

Clinical Genetics, EarlyView.
Among 15 450 Korean individuals, noncoding RNU4‐2 variants, primarily the recurrent de novo n.64_65insT, make up 0.72% of neurodevelopmental disorders. Modeling and RNA‐seq suggest U4/U6 disruption and abnormal 5′ splice‐site selection, supporting routine use of WGS analysis for reanalyzing unresolved cases. ABSTRACT Neurodevelopmental disorders (NDDs)
Juhyeon Hong, Seungbok Lee, Soo Yeon Kim, Taekeun Kim, Woong‐Hee Shin, Sesong Jang, Ji‐Hwan Park, Dongmin Jang, Gunwoo Park, Jong Ho Cha, Jae So Cho, Anna Cho, Hunmin Kim, Hyewon Woo, Jon Soo Kim, Byung Chan Lim, Ji Eun Lee, Myungshin Kim, Chong Kun Cheon, Jungmin Choi, Jong‐Hee Chae   +20 more
wiley   +1 more source

Genetic Disorders Detectable by Fetal MRI: A Review. [PDF]

Diagnostics (Basel)
Wong KC, Chow TH, Cheung C, Chan JPK, Lee JCY, Kan EYL, Chu WCW.   +6 more
europepmc   +1 more source