Results 161 to 170 of about 385,840 (284)

Novel Compound Heterozygous Variants in the COG5 Gene Causing Fetal Hydrops and Skeletal Dysplasia. [PDF]

Mol Genet Genomic Med
Yang Q, He W, Zhang Q, Yi S, Zhou X, Wang L, Yi S, Qin Z, Luo J.   +8 more
europepmc   +1 more source

A Diagnostic Challenge: Unilateral Gingival Enlargement With Altered Tooth Eruption in a Paediatric Patient

Oral Diseases, EarlyView.
Luca Cricenti, Rossella Ninivaggi, Federico Liguori, Nicola Scotti, Allegra Comba, Patrizia Defabianis, Federica Romano   +6 more
wiley   +1 more source

Prenatal exome sequencing of fetuses with central nervous system anomalies based on prenatal ultrasound and magnetic resonance imaging diagnosis: A retrospective cohort study with a systematic review and meta‐analysis

Acta Obstetricia et Gynecologica Scandinavica, Volume 105, Issue 10, Page 1950-1964, October 2026.
Prenatal exome sequencing significantly improves diagnostic yield over chromosomal microarray analysis for fetal CNS abnormalities, with a diagnostic yield of 16% in our cohort and 27% in the meta‐analysis. Diagnostic yields vary across different phenotypes. Abstract Introduction Fetal central nervous system (CNS) abnormalities have diverse etiologies,
Jia Yao, Yan Wang, Gang Li, Zhitao Zhang, Yuan Lv, Lizhu Chen   +5 more
wiley   +1 more source

Small molecule inhibition rescues the skeletal dysplasia phenotype of Trpv4 mutant mice. [PDF]

JCI Insight
Nevarez L, Ismaili TK, Zieba J, Martin J, Wachtell D, Diaz D, Ramirez JA, Aceves V, Ito J, Gray RS, Goldstein D, Sahdeo S, Krakow D, Cohn DH.   +13 more
europepmc   +1 more source

Cousin Syndrome Due to TBX15 Gene Variants: Three Novel Cases and Review of the Literature

Clinical Genetics, Volume 110, Issue 4, Page 480-486, October 2026.
Cousin syndrome (MIM#260660) is a rare recognizable genetic disorder characterized by short stature, pelvi‐scapular dysplasia, and craniofacial dysmorphism due to biallelic pathogenic variants in the TBX15 gene. ABSTRACT Cousin syndrome (MIM#260660) is a rare genetic disorder characterized by short stature, pelvi‐scapular dysplasia and craniofacial ...
Wafaa Alharbi, Abdul A. Peer‐Zada, Abeer S. Alaqidi, Corinne Collet, Capucine Coulon, Aziza Mushiba, Florence Petit   +6 more
wiley   +1 more source

Mucopolysaccharidosis or Skeletal Dysplasia? Clinical and Radiologic Clues for Differential Diagnosis Based on Difficult Cases [PDF]

J Clin Res Pediatr Endocrinol
Akyüz A, Atalar H, Çilesiz K, İnci A, Okur İ, Tümer L, Ezgü F.   +6 more
europepmc   +1 more source

Skeletal Dysplasias [PDF]

Journal of Medical Genetics, 1975
openaire   +1 more source

Neuroimmune alterations and nociceptive behavior in oral carcinogenesis in rats

European Journal of Oral Sciences, Volume 134, Issue 5, October 2026.
Abstract Oral cancer pain is a frequent and debilitating symptom associated with tumor progression. Although neuronal mechanisms have been extensively studied, the role of immune and glial cells in the trigeminal nociceptive pathway remains poorly understood.
Joana Maria dos Santos Alves, Luiza Clertiani Vieira Alves, Vitória Tavares Bessa, Anamaria Falcão Pereira, Roberto César Pereira Lima Júnior, Mariana Lima Vale, Karuza Maria Alves Pereira, Delane Viana Gondim   +7 more
wiley   +1 more source

Skeletal dysplasia and growth disorder with <i>SEC23A</i> p.Arg716Cys variant-related cranio-lenticulo-sutural dysplasia. [PDF]

Clin Pediatr Endocrinol
Yagasaki H, Narusawa H, Watanabe D, Nagata M, Yonei A, Asano Y, Aoyagi K, Inukai T.   +7 more
europepmc   +1 more source

Nucleic Acids as Emerging Regulators of Calcium Phosphate Biomineralization

The FASEB Journal, Volume 40, Issue 17, 15 September 2026.
Calcium phosphate biomineralization has traditionally been considered a protein‐regulated process. This review highlights the emerging role of nucleic acids, which interact with mineral phases through adsorption, coprecipitation, and templating, thereby influencing crystal nucleation and growth.
Fanny Duhalde, Jessem Landoulsi, Xavier Houard   +2 more
wiley   +1 more source