Results 111 to 120 of about 22,168 (264)

A new locus for postaxial polydactyly type A/B on chromosome 7q21–q34 [PDF]

, 2003
Robert‐Jan H. Galjaard, Arie P.T. Smits, J.H.A.M. Tuerlings, Aagje G. Bais, Aida M Bertoli Avella, Guido J. Breedveld, Esther de Graaff, Ben A. Oostra, Peter Heutink   +8 more
openalex   +1 more source

A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies [PDF]

, 2017
Jeune asphyxiating thoracic dystrophy (JATD) is a skeletal dysplasia characterized by a small thoracic cage and a range of skeletal and extra-skeletal anomalies.
Alamro, Rana, Alkuraya, Fowzan S., Almoisheer, Agaadir, Alshiddi, Tarfa, Alzahrani, Fatma, Beales, Philip L., Faqeih, Eissa, Hashem, Amal, Holder, Isabel, Lausch, Ekkehart, Mitchison, Hannah M., Schmidts, Miriam, Shaheen, Ranad, Superti-Furga, Andrea   +13 more
core  

Multinodular goiter-cystic kidney-polydactyly syndrome [PDF]

, 2020
INSERM
openalex   +1 more source

An Ift80 mouse model of short rib polydactyly syndromes shows defects in hedgehog signalling without loss or malformation of cilia [PDF]

, 2011
Suzanne Rix, Amélie Calmont, Peter Scambler, Philip L. Beales   +3 more
openalex   +1 more source

Cauli: a mouse strain with an Ift140 mutation that results in a skeletal ciliopathy modelling jeune syndrome

, 2015
Cilia are architecturally complex organelles that protrude from the cell membrane and have signalling, sensory and motility functions that are central to normal tissue development and homeostasis.
Ah-Cann, Casey J, Bateman, John F, Bertram, John F, Caruana, Georgina, Dobbie, Michael S, Farlie, Peter G, Freckmann, Mary-Louise, Miller, Kerry A, Pope, Kate, Savarirayan, Ravi, Tan, Tiong Y, Welfare, Megan F   +11 more
core   +1 more source

Retinoblastoma and polydactyly in a child with 46, XY, 15pstk+ karyotype—A case report and literature review

Molecular Genetics & Genomic Medicine
Background Retinoblastoma (Rb) is the most common intraocular malignancy in childhood, originating from primitive retinal stem cells or cone precursor cells. It can be triggered by mutations of the RB1 gene or amplification of the MYCN gene.
Xiaohuan Pi, Qiming Zhang, Xinghua Wang, Fagang Jiang   +3 more
doaj   +1 more source

Congenital malformations at a referral hospital in Gorgan, Islamic Republic of Iran [PDF]

, 2005
This study recorded the rate of congenital malformations in 10 000 births at a referral hospital in Gorgan, Islamic Republic of Iran in 1998-99. The overall incidence of congenital malformations was 1.01% (1.19% in males and 0.76% in females).
Ahmadpour-Kacho, M., Golalipour, M.J., Vakili, M.A.   +2 more
core  

Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia [PDF]

, 2017
Iván Durán, S. Paige Taylor, Wenjuan Zhang, Jorge Martı́n, Faisal Qureshi, Suzanne M. Jacques, Robert Wallerstein, Ralph S. Lachman, Deborah A. Nickerson, Michael J. Bamshad, Daniel H. Cohn, Deborah Krakow   +11 more
openalex   +1 more source

Lower Extremity Polydactyly Does Not Disturb Finding One's Feet [PDF]

, 2023
Tim E. Sluijter, Mike Rüttermann
openalex   +1 more source

Identity-by-descent refines mapping of candidate regions for preaxial polydactyly II /III in a large Chinese pedigree [PDF]

, 2017
Xingyan Yang, Quan‐Kuan Shen, Xierzhatijiang Sulaiman, Hequn Liu, Min‐Sheng Peng, Ya‐Ping Zhang   +5 more
openalex   +1 more source