Results 161 to 170 of about 573,488 (281)

Rare Biallelic CTU2 Variants in an Individual With CAKUT: Clinical Characterization and Minigene Splicing Analysis

Molecular Genetics &Genomic Medicine, Volume 14, Issue 8, August 2026.
Exome sequencing in 200 CAKUT patients identified compound heterozygous rare CTU2 variants in one renal‐predominant case. Minigene splicing assays showed c.913C>T partially increased exon 9 skipping, supporting further case collection and kidney‐relevant studies to clarify the role of CTU2 in renal developmental phenotypes.
Qian Liu, Xueqin Cheng, Bixia Zheng, Chunli Wang, Wei Zhou, Aihua Zhang   +5 more
wiley   +1 more source

Risks of gynecological and breast cancers in women with endometriosis or adenomyosis: A nationwide cohort study

Acta Obstetricia et Gynecologica Scandinavica, Volume 105, Issue 8, Page 1607-1613, August 2026.
Endometriosis (including adenomyosis) is an inflammatory disease with lesions of endometrial tissue outside the uterus or in the uterine wall. In this study on Swedish women, endometriosis or adenomyosis was associated with persistently increased risks of breast and epithelial ovarian cancers, especially clear cell, endometrioid, and low‐grade serous ...
Louise Moberg, Xinjun Li, Filip Herbst, Filip Jansåker, Arturas Dobilas, Kristina Sundquist, Christer Borgfeldt   +6 more
wiley   +1 more source

Assessing the clinical value of cervical biopsies in individuals with transformation zone type 3 at colposcopy: A cross‐sectional study

Acta Obstetricia et Gynecologica Scandinavica, Volume 105, Issue 8, Page 1597-1606, August 2026.
In transformation zone type 3, a systematic multiple biopsy protocol improved CIN2+ detection, particularly in high‐grade referrals, whereas yield remained limited in low‐grade referral cases. DSI‐assisted colposcopy did not increase biopsy sensitivity’.
Vibe Munk Bertelsen, Berit Bargum Booth, Mette Tranberg, Lone Kjeld Petersen, Pinar Bor   +4 more
wiley   +1 more source

Comprehensive Assessment of the KDM2B‐Associated Neurodevelopmental Disorder and the 12q24.31 Microdeletion Syndrome

Clinical Genetics, Volume 110, Issue 2, Page 150-164, August 2026.
We set out to characterize genotype–phenotype correlations in the recently delineated KDM2B‐associated neurodevelopmental disorder. We observe a highly penetrant CxxC domain‐related phenotype with distinct facial features supported by GestaltMatcher. In contrast, our findings point to variable expressivity and incomplete penetrance of loss‐of‐function ...
Amber S. E. van Oirsouw, Tzung‐Chien Hsieh, Martijn Koetsier, Abdulrazak Alali, Fatimah Albuainain, Elena Bacchelli, Tahsin Stefan Barakat, Yline Capri, Sandra Chantot‐Bastaraud, Valeria Capra, Deanna Alexis Carere, Emma Clement, Nour Elkhateeb, Madeleine Franchi, Jing‐Mei Li, Nicole Matthews, Vanda McNiven, Sarju G. Mehta, Masayuki Nakamura, Chanika Phornphutkul, Nicole Revencu, Marcello Scala, Natalie Shallow, Jennifer Stefanich, Marta Viggiano, Paola Visconti, Susan Walker, Federico Zara, Mariëlle Alders, Bobby P. C. Koeleman, Renske Oegema   +30 more
wiley   +1 more source

Morphological differences between residual childhood hip dysplasia with previous osteotomy and adolescent-onset hip dysplasia. [PDF]

J Orthop Surg Res
Liu HJ, Chen IH, Wang TM, Lee CC, Lin SC, Kuo KN, Wu KW.   +6 more
europepmc   +1 more source

Does gradual weaning improve outcomes after successful Pavlik harness treatment in developmental hip dysplasia? A retrospective comparative study. [PDF]

Arch Orthop Trauma Surg
Kocak S, Diril SK, Caliskan M, Caliskan G, Terzi E, Ozyalcin A, Dogan S, Sahin MA, Sahin A, Misir A, Erturk C.   +10 more
europepmc   +1 more source

The Treatment of Hip Dysplasia in Adolescent Patients. [PDF]

Curr Rev Musculoskelet Med
Asturias A, Kiani S, Sadjadi R, Swarup I.   +3 more
europepmc   +1 more source

Complications and Short-Term Patient Outcomes of Periacetabular Osteotomy for Symptomatic Mild Hip Dysplasia

HIP International, 2017
B. Ricciardi, K. Fields, C. Wentzel, D. Nawabi, B. Kelly, E. Sink   +5 more
semanticscholar   +1 more source

Imaging Parameters for Contralateral Hip Dysplasia in Asymptomatic Adults Over 60 Years Old With Femoral Neck Fractures. [PDF]

Orthop Surg
Chen Z, Zhang Z, Cheng H, Xu Z, Chai W, Luo D, Zhang H.   +6 more
europepmc   +1 more source

Patient-Defined Outcomes in Adults with Hip Dysplasia: What Activities Do Patients Hope to Improve with Treatment? [PDF]

JB JS Open Access
Gaddis JM, Salgado-Flores M, Lee S, Ghazi S, Butler H, Mulligan EP, South C, Wells JE.   +7 more
europepmc   +1 more source