Results 231 to 240 of about 37,774 (292)

Müllerian Duct Aplasia in a Girl With SMARCB1‐Related Coffin–Siris Syndrome: A Rare Co‐Occurring Anomaly

Clinical Genetics, EarlyView.
Genetic causes of Müllerian aplasia remain largely unknown. We report the first molecularly confirmed case of Coffin–Siris syndrome 3 caused by a de novo SMARCB1 variant presenting with Müllerian aplasia, supporting a potential association between BAF complex dysfunction and abnormal Müllerian duct development. Created in BioRender. Herlin, M. K. (2026)
Anneli C. S. Bolund, Esben Thyssen Vestergaard, Edvard Marinovskij, Dorte Launholt Lildballe, Jenny Blechingberg, Morten Krogh Herlin   +5 more
wiley   +1 more source

Severity-dependent risk of chromosomal abnormalities in fetuses with short long bones: a 10-year cohort study. [PDF]

Hum Genomics
Huang Y, Ding H, Lu J, Wang T, Shi X, Huang C, Wu J.   +6 more
europepmc   +1 more source

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

NF-κB Pathway Activation Mutations Linked to Failure of CpG-Stimulated Karyotyping in DLBCL. [PDF]

Int J Lab Hematol
Chen X, Yang C, Lang X, Chen H, Wang S, Li B, Xiao S.   +6 more
europepmc   +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

Diagnostic performance of DNA index for detection of high hyperdiploidy in childhood B-cell acute lymphoblastic leukemia. [PDF]

PLoS One
Rivera-Orcoapaza C, Rosales-Rimache J.
europepmc   +1 more source

Testing the morphology‐ and intuition‐based taxonomic hypotheses using integrative approach: unexpected discovery of triplet of sibling species within a widespread Eurasian butterfly, Hyponephele lycaon

Cladistics, EarlyView.
Abstract In well‐studied groups of organisms, the taxonomic landscape can be very complex, with several alternative classifications describing diversity within the same set of populations. For example, three hypotheses have previously been proposed to describe the taxonomy of the common and widespread Eurasian Dusky Meadow Brown butterfly, Hyponephele ...
Elena A. Pazhenkova, Vladimir A. Lukhtanov   +1 more
wiley   +1 more source

Prenatal diagnosis and genetic counseling of a <i>de novo</i> 16q24.3 microdeletion in a Chinese family. [PDF]

J Int Med Res
Wu W, Zuo Y, Jin J.
europepmc   +1 more source

Application of multi-technique integration in the prenatal diagnosis of mosaicism derived from an ICSI blastocyst: a diagnostic approach and clinical implications. [PDF]

Arch Gynecol Obstet
Huang Y, Zhang S, Zou P, Li F, Huang L, Li X, Wang H.   +6 more
europepmc   +1 more source

Genetic Evaluation and Pregnancy Outcomes in Foetuses With Overgrowth at a Tertiary Referral Center. [PDF]

J Cell Mol Med
Wu X, Shen Q, Xie X, Chen Y, Liang B, Wang M, Guo D, Lin N, Xu L.   +8 more
europepmc   +1 more source