Results 281 to 290 of about 67,545 (327)

Pattern of Deep Grey Matter Undersizing Boosts MRI‐Based Diagnostic Classifiers in Fetal Alcohol Spectrum Disorders

Human Brain Mapping, Volume 46, Issue 8, June 1, 2025.
Using MRI‐based normative scaling analysis, we identified a robust pattern of deep grey matter undersizing in fetal alcohol syndrome (FAS). This novel neuroanatomical marker boosted the performances of brain size‐based classifiers and their generalizability to fetal alcohol spectrum disorders lacking FAS‐specific clinical features, supporting its use ...
Eliot Kerdreux, Justine Fraize, Alexandra Ntorkou, Pauline Garzón, Richard Delorme, Monique Elmaleh‐Berges, Edouard Duchesnay, Lucie Hertz‐Pannier, Yann Leprince, Jean‐François Mangin, David Germanaud   +10 more
wiley   +1 more source

Head circumference percentiles in Indian children with Down syndrome. [PDF]

Front Pediatr
Kaur H, Bhalla AK, Panigrahi I, Kaur R, Sudhera N.   +4 more
europepmc   +1 more source

Expanding the phenotypic and genetic landscape of congenital neutropenia through whole‐exome and genome sequencing

HemaSphere, Volume 9, Issue 6, June 2025.
Abstract Congenital neutropenia (CN) comprises a heterogeneous group of rare genetic disorders. While some CN cases present only with neutropenia, others present with additional extra‐hematological manifestations. The most common cause of CN is variants in ELANE; however, approximately 30 other genes have been implicated.
Séverine Marti, Philippe Pellet, Blandine Beaupain, Léa Durix, Julien Buratti, Yves Réguerre, Nathalie Aladjidi, Saba Azarnoush, Severine Clauin, Wahid Abou Chahla, Gilles Blaison, Jeremy Bertand, Damien Bodet, Benoit Brethon, Jessica Chane‐Teng, Manon Delafoy, Chrystelle Dupraz, Virginie Gandemer, Philippe Denizeau, Alice Goldenberg, Pierre Hirsch, Anaïs l'Haridon, Aude Marie‐Cardine, Gabriella Vera, Brigitte Nelken, Laure Nizery, Marie Nolla, Marlène Pasquet, Jérémie Rosain, Louis Terriou, Isabelle Plo, Jean Donadieu, Christine Bellanné‐Chantelot   +32 more
wiley   +1 more source

The phenotypic and genetic spectrum of AKT3-related neurodevelopmental condition. [PDF]

Sci Rep
Wang X, Zhang Z, Peng P, Peng J.
europepmc   +1 more source

Genetic and environmental factors contributing to anophthalmia and microphthalmia: Current understanding and future directions. [PDF]

World J Clin Pediatr
Goyal S, Tibrewal S, Ratna R, Vanita V.
europepmc   +1 more source

Genomic exploration of pediatric neurological disorders: a case series. [PDF]

J Med Case Rep
Tayade N, Manoj G, Kewat A, A AK, Devulapalli R, Kumar S, Polipalli SK, Nair BG, Bandapalli OR, Suravajhala P.   +9 more
europepmc   +1 more source

Expanding the phenotypic spectrum of CSNK2A1-associated Okur-Chung neurodevelopmental syndrome. [PDF]

HGG Adv
Ramadesikan S, Showpnil IA, Marhabaie M, Daley A, Varga EA, Gurusamy U, Pastore MT, Sites ER, Manickam M, Bartholomew DW, Hunter JM, White P, Wilson RK, Stottmann RW, Koboldt DC.   +14 more
europepmc   +1 more source

A Novel Approach for Self‐Care in Pregnant Women With Hypothyroidism: Mobile‐Based Development and Insights

Health Science Reports, Volume 8, Issue 6, June 2025.
ABSTRACT Background and Aim Hypothyroidism affects 2–3% of pregnant women. This study aims to develop a mobile self‐care program to enhance self‐management and health outcomes for these women. Methods The present study is a developmental and applied research that was conducted in three stages at the Yas Hospital's Women's Clinic and Pregnancy Care ...
Narges Mahdavi, Reza Safdari, Athena Behforouz, Nahid Ramezanghorbani   +3 more
wiley   +1 more source

Postural Abnormalities in Children with Congenital Zika Syndrome-Related Neurological and Visual Impairment. [PDF]

Viruses
Borba R, Rodrigues A, Ventura CV, Marques C, Nóbrega L, Higino T, Santos D, Sallum J, Ventura LO.   +8 more
europepmc   +1 more source

Expanding the clinical spectrum of 19p13.3 microduplication syndrome: a case report highlighting nephrotic syndrome and literature review. [PDF]

BMC Pediatr
Sun W, Yan H, Sun M, Wang J, Li K.
europepmc   +1 more source