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K Gaudenz

Research Profile

Disorders

Chemicals & Drugs

Concepts & Ideas

Genes & Molecular Sequences

Physiology

Phenomena

Polymorphism, Single-Stranded Conformational

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Publications

TOP 3
K Gaudenz; Erich Roessler; NA Quaderi; Brunella Franco; G Feldman; D L Gasser; B Wittwer; Jürgen Horst; Eugenio Montini; John M Opitz; Andrea Ballabio; Maximilian Muenke
Opitz G/BBB syndrome in Xp22: mutations in the MID1 gene cluster in the carboxy-terminal domain.
K Gaudenz; Erich Roessler; S Vainikka; K Alitalo; Maximilian Muenke
Analysis of patients with craniosynostosis syndromes for a pro246Arg mutation of FGFR4.
F R Vargas; Erich Roessler; K Gaudenz; E Belloni; A S Whitehead; P N Kirke; J L Mills; G Hooper; R E Stevenson; I Cordeiro; P Correia; T Felix; R Gereige; Michael L Cunningham; S Canún; Stylianos Antonarakis; Tom Strachan; LC Tsui; SW Scherer; Maximilian Muenke
Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly.

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All Publications

1998: K Gaudenz; Erich Roessler; NA Quaderi; Brunella Franco; G Feldman; D L Gasser; B Wittwer; Jürgen Horst; Eugenio Montini; John M Opitz; Andrea Ballabio; Maximilian Muenke
Opitz G/BBB syndrome in Xp22: mutations in the MID1 gene cluster in the carboxy-terminal domain.
American journal of human genetics 1998;63(3):703-10.
1998: K Gaudenz; Erich Roessler; S Vainikka; K Alitalo; Maximilian Muenke
Analysis of patients with craniosynostosis syndromes for a pro246Arg mutation of FGFR4.
Molecular genetics and metabolism 1998;64(1):76-9.
1998: F R Vargas; Erich Roessler; K Gaudenz; E Belloni; A S Whitehead; P N Kirke; J L Mills; G Hooper; R E Stevenson; I Cordeiro; P Correia; T Felix; R Gereige; Michael L Cunningham; S Canún; Stylianos Antonarakis; Tom Strachan; LC Tsui; SW Scherer; Maximilian Muenke
Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly.
Human genetics 1998;102(4):387-92.
1998: Karen W Gripp; Donna M McDonald-McGinn; K Gaudenz; Linton A Whitaker; Scott P Bartlett; P M Glat; L B Cassileth; R Mayro; E H Zackai; Maximilian Muenke
Identification of a genetic cause for isolated unilateral coronal synostosis: a unique mutation in the fibroblast growth factor receptor 3.
The Journal of pediatrics 1998;132(4):714-6.
1997: NA Quaderi; Susann Schweiger; K Gaudenz; Brunella Franco; Elena I Rugarli; Wolfgang Berger; G J Feldman; M Volta; Gennaro Andolfi; S Gilgenkrantz; Robert W Marion; Raoul Hennekam; John M Opitz; Maximilian Muenke; Hans-Hilger Ropers; Andrea Ballabio
Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22.
Nature genetics 1997;17(3):285-91.
1997: Erich Roessler; E Belloni; K Gaudenz; F Vargas; SW Scherer; LC Tsui; Maximilian Muenke
Mutations in the C-terminal domain of Sonic Hedgehog cause holoprosencephaly.
Human molecular genetics 1997;6(11):1847-53.
1997: Erich Roessler; D E Ward; K Gaudenz; E Belloni; SW Scherer; Dian Donnai; J Siegel-Bartelt; LC Tsui; Maximilian Muenke
Cytogenetic rearrangements involving the loss of the Sonic Hedgehog gene at 7q36 cause holoprosencephaly.
Human genetics 1997;100(2):172-81.
1997: Maximilian Muenke; Karen W Gripp; Donna M McDonald-McGinn; K Gaudenz; Linton A Whitaker; Scott P Bartlett; Richard Markowitz; N H Robin; NA Nwokoro; J J Mulvihill; H W Losken; J B Mulliken; A E Guttmacher; R S Wilroy; L A Clarke; Georgina Hollway; Lesley C Adès; Eric A Haan; John C Mulley; M M Cohen; GA Bellus; Clair A Francomano; DM Moloney; Steven A Wall; Andrew O M Wilkie
A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome.
American journal of human genetics 1997;60(3):555-64.
1996: Erich Roessler; E Belloni; K Gaudenz; Philippe Jay; Philippe Berta; Stephen W Scherer; Lap-Chee Tsui; Maximilian Muenke
Mutations in the human Sonic Hedgehog gene cause holoprosencephaly.
Nature genetics 1996;14(3):357-60.
1996: GA Bellus; K Gaudenz; E H Zackai; L A Clarke; J Szabo; Clair A Francomano; Maximilian Muenke
Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes.
Nature genetics 1996;14(2):174-6.