Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Jacob W P Potuijt"'
Autor:
Jacob W. P. Potuijt, Anna Sowinska-Seidler, Ewelina Bukowska-Olech, Picard Nguyen, Aleksander Jankowski, Frank Magielsen, Karolina Matuszewska, Christianne A. van Nieuwenhoven, Robert-Jan H. Galjaard, Annelies de Klein, Aleksander Jamsheer
Publikováno v:
Molecular Genetics and Genomics, 297(5), 1343-1352. Springer-Verlag
Herein, we report on a large Polish family presenting with a classical triphalangeal thumb–polysyndactyly syndrome (TPT-PS). This rare congenital limb anomaly is generally caused by microduplications encompassing the Sonic Hedgehog (SHH) limb enhan
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d61506290ce067fa8594addc7f5d332
https://pure.eur.nl/en/publications/71cd386f-25ea-4e52-8753-612255f1dc87
https://pure.eur.nl/en/publications/71cd386f-25ea-4e52-8753-612255f1dc87
Autor:
Robert Jan H. Galjaard, Esther de Graaff, Christianne A. van Nieuwenhoven, Jeannette Hoogeboom, Jacob W P Potuijt
Publikováno v:
Journal of Medical Genetics
Journal of Medical Genetics, 57(10), 660-663. BMJ Publishing Group
Journal of Medical Genetics, 57(10), 660-663. BMJ Publishing Group
BackgroundThe of zone of polarizing activity regulatory sequence (ZRS) is a regulatory element residing in intron 5 of LMBR1 and regulates Sonic Hedgehog expression in the limb bud. Variants in the ZRS are generally fully penetrant and can cause trip
Publikováno v:
Genetics in Medicine, 22(4), 817-818. Lippincott Williams & Wilkins
The recent paper by Xu et al. investigated a Chinese fourgeneration family with a polydactylous limb anomaly.1 Affected family members shared a sequence variant in an enhancer of Sonic Hedgehog (SHH), a gene essential for embryonic limb patterning. T
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 22(4)
Autor:
Jacob W P Potuijt, Christianne A. van Nieuwenhoven, Peter J. van der Spek, Nadav Ahituv, Steven E.R. Hovius, Kerby C. Oberg, Robert-Jan H. Galjaard
Publikováno v:
The Journal of Hand Surgery, European Volume
Journal of Hand Surgery. European Volume, 44, 59-68
Journal of Hand Surgery. European Volume, 44, 1, pp. 59-68
The Journal of hand surgery, European volume, vol 44, iss 1
Journal of Hand Surgery-European Volume, 44(1), 59-68. SAGE Publications Ltd
Journal of Hand Surgery. European Volume, 44, 59-68
Journal of Hand Surgery. European Volume, 44, 1, pp. 59-68
The Journal of hand surgery, European volume, vol 44, iss 1
Journal of Hand Surgery-European Volume, 44(1), 59-68. SAGE Publications Ltd
Contains fulltext : 203356.pdf (Publisher’s version ) (Open Access) Despite being a rare congenital limb anomaly, triphalangeal thumb is a subject of research in various scientific fields, providing new insights in clinical research and evolutionar
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d18a43e982d0a36e8b31f5aa758e862b
https://doi.org/10.1177/1753193418803521
https://doi.org/10.1177/1753193418803521
Publikováno v:
The Journal of Hand Surgery, European Volume
Journal of Hand Surgery. European Volume, 44, 1, pp. 69-79
Journal of Hand Surgery-European Volume, 44(1), 69-79. SAGE Publications Ltd
Journal of Hand Surgery. European Volume, 44, 69-79
Journal of Hand Surgery. European Volume, 44, 1, pp. 69-79
Journal of Hand Surgery-European Volume, 44(1), 69-79. SAGE Publications Ltd
Journal of Hand Surgery. European Volume, 44, 69-79
Triphalangeal thumb is a rare congenital anomaly in which the thumb has three phalanges. Clinical presentation of triphalangeal thumb can vary considerably and can be present in both hands or unilateral. The thumb can be long with a finger-like appe
Autor:
Martijn Baas, Steven E.R. Hovius, Rivka Sukenik-Halevy, Deon J Venter, Picard Nguyen, Annelies de Klein, Hannie Douben, Renee Gallagher, Robert-Jan H. Galjaard, Christianne A. van Nieuwenhoven, Jacob W P Potuijt, Sigrid M. A. Swagemakers, Peter J. van der Spek, Nadav Ahituv
Publikováno v:
Genetics in Medicine, 20(11), 1405-1413. Lippincott Williams & Wilkins
Genetics in Medicine, 20, 11, pp. 1405-1413
Genetics in Medicine, 20, 1405-1413
Genetics in Medicine, 20, 11, pp. 1405-1413
Genetics in Medicine, 20, 1405-1413
Item does not contain fulltext PURPOSE: The zone of polarizing activity regulatory sequence (ZRS) is an enhancer that regulates sonic hedgehog during embryonic limb development. Recently, mutations in a noncoding evolutionary conserved sequence 500 b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d84cc3fc011f2490ac9a44bd901c25c2
https://pure.eur.nl/en/publications/29bcecde-7bb6-4174-a137-0d1cc1642cf5
https://pure.eur.nl/en/publications/29bcecde-7bb6-4174-a137-0d1cc1642cf5
Autor:
Jacob W P Potuijt, A. Jeannette M. Hoogeboom, Robert-Jan H. Galjaard, Christianne A. van Nieuwenhoven, Steven E.R. Hovius, Martijn Baas
Publikováno v:
American Journal of Medical Genetics Part A, 173(11), 2898-2905. Wiley-Liss Inc.
American Journal of Medical Genetics. Part a
American Journal of Medical Genetics. Part a
Triphalangeal thumbs (TPTs) are regularly caused by mutations in the ZRS in LMBR1. Phenotypic variability can be present in TPT-families. However, recent observations suggest an increased occurrence of severe phenotypes in the Dutch TPT-population. T
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::833559ba9136eedc35c98f6343c8421d
https://pure.eur.nl/en/publications/1c700811-a727-4780-8475-b2061d9ef054
https://pure.eur.nl/en/publications/1c700811-a727-4780-8475-b2061d9ef054