Results 101 to 110 of about 22,168 (264)

Identification of truncated variants in GLI family zinc finger 3 (GLI3) associated with polydactyly

Journal of Orthopaedic Surgery and Research
Background Polydactyly is a prevalent congenital anomaly with an incidence of 2.14 per 1000 live births in China. GLI family zinc finger 3 (GLI3) is a classical causative gene of polydactyly, and serves as a pivotal transcription factor in the hedgehog ...
Run-Yan Wang, Qin Xiong, Si-Hua Chang, Jie-Yuan Jin, Rong Xiang, Lei Zeng, Fang Yu   +6 more
doaj   +1 more source

Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum. [PDF]

, 2014
Somatic mutations in the phosphatidylinositol/AKT/mTOR pathway cause segmental overgrowth disorders. Diagnostic descriptors associated with PIK3CA mutations include fibroadipose overgrowth (FAO), Hemihyperplasia multiple Lipomatosis (HHML), Congenital ...
Balasubramanian, M., Biesecker, L.G., Blumhorst, C., Braverman, N., Brennan, L.M., Chandler, K.E., Clark, R., Crow, Y.J., Cunningham, M.L., Darling, T., Fraser, J.L., Geer, J., Graham, J.M., Grant, I., Gucev, Z., Henderson, A., Huson, S.M., Jakkula, E., Keppler-Noreuil, K.M., Krishnamurty, V., Lindhurst, M.J., Parker, V.E., Pena, L.D., Sapp, J.C., Sellars, E.A., Semple, R.K., Shuen, A., Sutton, V.R., Tasic, V., Tosi, L.L., Whitehouse, R.W.   +30 more
core   +1 more source

Thumb Polydactyly: Clinical Outcome after Reconstruction

Journal of Orthopaedic Surgery, 2006
Purpose. To evaluate clinical and cosmetic outcomes of reconstruction in thumb polydactyly and prognostic value of the Wassel classification. Methods.
CH Yen, WL Chan, HB Leung, KH Mak
doaj   +1 more source

The Role of Apoptosis in the Manifestation of Polydactyly and Arhinencephaly in Genetic Mutant Mouse Pdn/Pdn* [PDF]

, 1994
Ichiro Naruse, Hiromi Keino, Masahiko Taniguchi, Shigeo Masaki   +3 more
openalex   +1 more source

First-trimester prenatal diagnosis of Ellis–van Creveld syndrome

Taiwanese Journal of Obstetrics & Gynecology, 2012
Objective: To present the perinatal findings and first-trimester molecular and transabdominal ultrasound diagnosis of a fetus with Ellis–van Creveld (EvC) syndrome.
Chih-Ping Chen, Chen-Yu Chen, Schu-Rern Chern, Jun-Wei Su, Wayseen Wang   +4 more
doaj   +1 more source

SYNTROPY OF UNCLASSIFIED COMPLEXES OF MULTIPLE CONGENITAL MALFORMATIONS [PDF]

, 2014
Statistical analysis of unclassified complexes multiple of congenital malformations was performed . Frequency of the most frequent combination of defects consisting of multiple congenital malformations was determined , syntropy index was defined ...
Andriichuk, D., Boychuk, T.M., Lastivka, I., Sorokman, T.V.   +3 more
core  

RF02 | PMON323 Pituitary stalk interruption syndrome, polydactyly, polymicrogyria and a ZRSR2 variant

, 2022
An Jacobs, Laurens Hannes, Anne Rochtus, Kristina Casteels, Marta Atzori, Catia Attanasio, Elise Pelgrims, Jeroen Breckpot, Francis de Zegher   +8 more
openalex   +1 more source

Clinical study of 459 polydactyly cases in China, 2010 to 2014 [PDF]

, 2016
Ying Xiang, Jingxia Bian, Zhigang Wang, Yunlan Xu, Qihua Fu   +4 more
openalex   +1 more source

Trisomy 2p syndrome: A fetus with anencephaly and postaxial polydactyly [PDF]

, 1999
Geoffrey K. Hahm, Rolf F. Barth, Gail M. Schauer, Rosemary Reiss, John M. Opitz   +4 more
openalex   +1 more source

Anaesthetic management of patient with Ellis Van Creveld syndrome [PDF]

, 2008
A known case of Ellis-Van Creveld Syndrome was scheduled for emergency repair of obstructed paraumblical hernia. We describe the anaesthetic management of the case with special reference to the classic physical and physiological manifestations of this ...
Minai, Fauzia N., Shamim, Faisal
core   +1 more source