Results 101 to 110 of about 37,403 (228)

Retinoic Acid Informs the Positional Identity of Frontonasal Neural Crest Cells Through Alx Family of Transcription Factors

The FASEB Journal, Volume 40, Issue 12, 30 June 2026.
Retinoic acid (RA) regulates the positional identity of cranial neural crest cells (CNCCs) through the transcription factors Alx1 and Alx4. Upon receiving RA from the local environment, liganded RAR/RXR heterodimers activate the expression of Alx1 and Alx4, which promote the frontonasal identity of CNCCs and inhibit the first pharyngeal arch identity ...
Shuxuan Wu, Yifan Lu, Yixin Tu, Yuke Xi, Qianxue Wan, Minghui Yue, Huan Liu, Zhaoming Wu   +7 more
wiley   +1 more source

Gallbladder agenesis with common bile duct stone - A rare case with a brief review of the literature

The Turkish Journal of Gastroenterology, 2011
Amit MITTAL, Sanjeev SINGAL, Rikki SINGAL, Vinod MEHTA   +3 more
doaj   +1 more source

Genetic Abnormalities and Clinical Management of Fetal Genitourinary System Anomalies in Eastern China

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1362-1371, June 2026.
ABSTRACT To investigate the correlation between genetic abnormalities and fetal genitourinary (GU) anomalies in Eastern China and to provide assistance for the clinical management of fetuses with different types of GU anomalies. Five hundred forty‐five fetuses with GU anomalies were enrolled, undergoing karyotyping, copy number variation sequencing ...
Jie Liang, Jiebin Wu, Lin Zhang, Yunmeng Qi, Yi Wang, Xu Cao, Jingfang Zhai   +6 more
wiley   +1 more source

Two‐Year Follow‐Up of Ectodermal Dysplasia‐Syndactyly Syndrome 1 in a Palestinian Child Successfully Treated With Topical Minoxidil and Tretinoin: A Case Report

Clinical Case Reports, Volume 14, Issue 6, June 2026.
Clinical timeline of the reported EDSS1 case, illustrating disease onset, diagnostic milestones, treatment initiation, treatment modifications, and longitudinal response to combined topical minoxidil and tretinoin therapy from infancy through the last follow‐up.
Bana O. Aburajab, Hamza M. A. Ghaith, Nada Ishti, Muawia O. Aburajab   +3 more
wiley   +1 more source

Cat Eye Syndrome in a Sudanese Infant: Congenital Cataract in the Absence of Iris Coloboma: A Case Report

Clinical Case Reports, Volume 14, Issue 6, June 2026.
ABSTRACT We report the first Cat Eye Syndrome case from Sudan: a 5‐month‐old female with growth retardation, craniofacial dysmorphism, congenital cataract without iris coloboma, and ventricular septal defect. Cytogenetics confirmed 47,XX,+idic(22)(q11.2).
Rayan Khalid, Imad Fadl‐Elmula
wiley   +1 more source

Agenesis of the Hemidiaphragm

Annals of Saudi Medicine, 1996
A H, Al-Salem, H, Abu-Srair, S, Qaisaruddin, I, Al Dabbous   +3 more
openaire   +2 more sources

Integrative genomic and spatial transcriptomic analysis elucidates the oligodendrocyte‐mediated etiology of epileptic cortical thinning

Epilepsia Open, Volume 11, Issue 3, Page 895-911, June 2026.
Abstract Objective Focal epilepsy is characterized by progressive cortical thinning, particularly within limbic structures; however, whether this atrophy reflects acquired seizure‐induced damage or shared genetic predisposition remains unresolved. Methods We integrated genome‐wide association study (GWAS) summary statistics from the ILAE Consortium ...
Dingyuan Zhang, Qianqian Zhang, Guangming Li, Lingting Yu, Yanling Ma, Xiaoli Hong, Yujie Kui, Shanshan Cai, Jianguang Sun, Zechao Zhu   +9 more
wiley   +1 more source

A c.89G>C p.(Gly30Ala) Variant in the DHCR7 Gene as a Cause of a Mild Phenotype in the Smith‐Lemli‐Opitz Syndrome

Molecular Genetics &Genomic Medicine, Volume 14, Issue 6, June 2026.
Smith‐Lemli‐Opitz syndrome (SLOS) is an autosomal recessive disorder caused by pathogenic variants in the DHCR7 gene. Based on our observations and a review of the literature, we demonstrate that the NM_001360.2(DHCR7):c.89G>C p.(Gly30Ala) variant is associated with a mild SLOS phenotype.
Júlia Martinková, Emílie Vyhnálková, Martin Schwarz, Miroslava Balaščaková, Veronika Biddle, Romana Borská, Lenka Fajkusová, Lukáš Ryba, Anna Křepelová   +8 more
wiley   +1 more source

Fibroids in obstructed hemivagina and ipsilateral renal anomaly‐like syndrome: Successful hysterectomy and vaginal septoplasty in a kidney transplant recipient with uterus didelphys, vaginal septum and renal agenesis

International Journal of Gynecology &Obstetrics, Volume 174, Issue 1, Page 491-493, July 2026.
Mariana Correia Moreira Cruz, Sophia Helena Batalha, Vitor Matheus Silva, Marcos de Lorenzo Messina, José Maria Soares Junior, Edmund Chada Baracat   +5 more
wiley   +1 more source

Congenital Pulmonary Airway Malformations in Children: Beyond the Pulmonary Cystic Lesion Is There Really an Associated Laryngo‐Tracheal Abnormality?

Pediatric Pulmonology, Volume 61, Issue 6, June 2026.
ABSTRACT Background Congenital pulmonary airway malformations (CPAMs) are rare developmental anomalies of the lower respiratory tract. Although their pulmonary and postnatal respiratory implications are well recognized, the possible coexistence of laryngotracheal abnormalities remains poorly investigated.
Antonio Mario Bulfamante, Ugo Maria Pierucci, Giorgio Imbrogno, Lydia Alejandra Olaya Leon, Gloria Pelizzo   +4 more
wiley   +1 more source