Results 121 to 130 of about 32,335 (282)

A Familial Case of Thauvin–Robinet–Faivre Syndrome (TROFAS), Presenting With Postaxial Polydactyly and Upper Lip Vascular Malformation

Clinical Genetics, EarlyView.
These two siblings carrying the homozygous FIBP c.412‐3_415dupCAGTTTG variant, previously identified in several Turkish families, further delineate the clinical spectrum of TROFAS. Postaxial polydactyly and an upper lip vascular malformation, observed in Patient 2, have not previously been reported in association with this syndrome.
Federica Ruscitti, Xenia Latypova, Faustine Ageorges, Antonio Vitobello, Christophe Philippe, Frédéric Tran Mau Them, Yannis Duffourd, Georges Gelwane, Cherine Benzouid, Yline Capri   +9 more
wiley   +1 more source

Risk factors for congenital cryptorchidism in a prospective birth cohort study.

, 2008
BackgroundRisk factors for congenital cryptorchidism were investigated in a prospective birth cohort study in Denmark and Finland from 1997 to 2001.Methodology and principal findingsIn total, 2,496 boys were examined for cryptorchidism at birth ...
Skakkebæk Niels E., Jørgen H. Petersen, Skakkebaek, Niels E, Katharina M Main, Toppari Jorma, Petersen, Jørgen H, Toppari, Jorma, Niels E Skakkebaek, Jørgen H Petersen, Tina K. Jensen, Ida N. Damgaard, Petersen Jørgen H., Ida N Damgaard, Main, Katharina M, Jorma Toppari, Damgaard Ida N., Main Katharina M., Damgaard, Ida N, Niels E. Skakkebæk, Tina K Jensen, Nordic Cryptorchidism Study Group, Jensen Tina K., Jensen, Tina K, Katharina M. Main   +23 more
core   +1 more source

Cerebral Ventriculomegaly With Abnormality of the Aqueduct of Sylvius: A Case Series

Clinical Genetics, EarlyView.
Genetic testing leads to a diagnostic rate of ~30% in a fetal cohort with cerebral ventriculomegaly where the neuropathological examination revealed a stenosis or atresia of the aqueduct of Sylvius. ABSTRACT Fetal cerebral ventriculomegalies are brain anomalies with potentially poor neurodevelopmental prognosis.
Romain Nicolle, Laurence Loeuillet, Bettina Bessieres, Lucile Boutaud, Sarah Grotto, Nicolas Bourgon, Maryse Bonniere, Jelena Martinovic, Aude Tessier, Nathalie Roux, Giulia Petrilli, Naima Talhi, Marion Lesieur‐Sebellin, Jérémy Bertrand, Anaïs L'haridon, Aurélie Coussement, Marie‐Laure Maurin, Marie‐Paule Beaujard, Valérie Malan, Férechté Razavi, Tania Attie‐Bitach   +20 more
wiley   +1 more source

RLIM‐associated neurodevelopmental disorders: From clinical spectrum to molecular mechanisms

The FEBS Journal, EarlyView.
RLIM (RNF12) is an E3 ubiquitin ligase essential for mammalian development. Loss‐of‐function variants cause Tønne–Kalscheuer syndrome, while duplications cause Xq13 duplication syndrome, highlighting RLIM dosage sensitivity. This review summarizes the genetics, clinical features, and molecular mechanisms of RLIM‐associated disorders, integrating ...
Madison Landon, Kyra Swildens, Vera M. Kalscheuer, Cristina Gontan, Francisco Bustos   +4 more
wiley   +1 more source

CHARGE Syndrome: A Narrative Review and Update on Diagnosis, Assessment and Management

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Background CHARGE syndrome (CS) is a rare multisystemic genetic condition caused by a pathogenic variant in the DNA‐binding protein‐7 CHD7 gene. The condition affects the development of neural crest cells, which give rise to craniofacial structures, cranial nerves, ears, eyes and the heart, resulting in diverse and complex clinical features ...
Eleni M. van Gelder, Suzanna E. L. Temple, Niall Jefferson, David Brown, Kasee Stratton‐Gadke, Madelene Rich, Steve Rose, Kim Blake   +7 more
wiley   +1 more source

Genetic Alterations Associated With Cryptorchidism

, 2008
CONTEXT: Cryptorchidism is the most frequent congenital birth defect in male children and represents an important risk factor for infertility and testicular cancer.
FERLIN, ALBERTO
core   +1 more source

Successful use of insect‐based (Hermetia illucens) diet in dogs with food‐responsive enteropathy

Journal of Small Animal Practice, EarlyView.
Objective Diet is an integral component of the management of chronic enteropathy in dogs. The role of insect‐based diets in this disease remains unknown. The objective of this study was to evaluate the impact of an insect‐based (Hermetia illucens) diet in dogs with presumed food‐responsive enteropathy.
K. Murtagh, E. Stavroulaki, M. Carvalho, E. J. O'Neill, C. T. Mooney   +4 more
wiley   +1 more source

Pubertal Dynamics of Sertoli and Leydig Cell Dysfunction in Klinefelter Syndrome

Clinical Endocrinology, Volume 105, Issue 6, Page 623-633, December 2026.
ABSTRACT Context Klinefelter syndrome (KS), defined by a 47, XXY karyotype, is commonly associated with progressive testicular failure. The precise timing of Sertoli and Leydig cell dysfunction during puberty remains unclear. Objective To determine the onset and progression of testicular insufficiency during puberty in KS, and to assess whether ...
Tredez Axelle, Christine Lefevre, Simon Boussion, Cindy Colson, Iva Gueorguieva, Francois Marcelli, Anne Laure Barbotin, Pascal Pigny, Hamza Benderradji, Clara Leroy   +9 more
wiley   +1 more source

Structural analysis of testicular appendices in patients with cryptorchidism

International Brazilian Journal of Urology, 2013
Objectives Report the incidence and structure of testicular appendices (TAs) in patients with cryptorchidism, comparing their incidence with epididymal anomalies (EA) and patency of the vaginal process (PVP) and analyzes the structure of TAs.
Guilherme D. Tostes, Suelen F. Costa, João P. de Carvalho, Waldemar S. Costa, Francisco J.b. Sampaio, Luciano A. Favorito   +5 more
doaj  

Testicular torsion in foals and stallions

Equine Veterinary Education, Volume 38, Issue 12, Page 642-646, December 2026.
Summary Testicular torsion is a rare condition in horses characterised by a change in the position of the testis due to the testicular mesentery twisting around its own axis; it can occur both when the testis is still in the abdominal cavity and when it has descended into the scrotum.
C. P. Bartmann
wiley   +1 more source