E-LIB Suche - Ergebnisse für: Höglund, Pia

1

A missense mutation in SLC26A3 is associated with human mal..:

Wedenoja, Satu ; Khamaysi, Ahlam ; Shimshilashvili, Liana...
Scientific Reports. 7 (2017) 1 - p. , 2017

Link: https://doi.org/10.1038/..

2

Follow‐up of a child with congenital chloride diarrhoea cau..:

Dechant, Markus‐Johann ; Wedenoja, Satu ; Höglund, Pia...
Acta Paediatrica. 101 (2012) 6 - p. , 2012

Link: https://doi.org/10.1111/..

3

Update on SLC26A3 mutations in congenital chloride diarrhea:

Wedenoja, Satu ; Pekansaari, Elina ; Höglund, Pia...
Human Mutation. 32 (2011) 7 - p. 715-722 , 2011

Link: https://doi.org/10.1002/..

4

Cl− Is Required for HCO3− Entry Necessary for Sperm Capacit..:

Chen, Wen Ying ; Xu, Wen Ming ; Chen, Zhang Hui...
Biology of Reproduction. 80 (2009) 1 - p. 115-123 , 2009

Link: https://doi.org/10.1095/..

5

Four novel mutations in the lactase gene (LCT) underlying c..:

Torniainen, Suvi ; Freddara, Roberta ; Routi, Taina...
BMC Gastroenterology. 9 (2009) 1 - p. , 2009

Link: https://doi.org/10.1186/..

6

Disruption of the SLC26A3-mediated anion transport is assoc..:

Höglund, Pia ; Hihnala, Satu ; Kujala, Minna...
Fertility and Sterility. 85 (2006) 1 - p. 232-235 , 2006

Link: https://doi.org/10.1016/..

7

Phenotypic consequences of genetic variation at hemizygous ..:

Kurotaki, Naohiro ; Shen, Joseph J. ; Touyama, Mayumi...
Genetics in Medicine. 7 (2005) 7 - p. 479-483 , 2005

Link: https://doi.org/10.1097/..

8

Interstitial 1q25.3‐q31.3 deletion in a boy with mild manif..:

Höglund, Pia ; Jalkanen, Reetta ; Marttinen, Eino.
American Journal of Medical Genetics Part A. 123A (2003) 3 - p. 290-295 , 2003

Link: https://doi.org/10.1002/..

9

SLC26A3 mutations in congenital chloride diarrhea: SLC26A3 ..:

Mäkelä, Siru ; Kere, Juha ; Holmberg, Christer.
Human Mutation. 20 (2002) 6 - p. 425-438 , 2002

Link: https://doi.org/10.1002/..

10

Identification of seven novel mutations including the first..:

Höglund, Pia ; Sormaala, Markus ; Haila, Siru...
Human Mutation. 18 (2001) 3 - p. 233-242 , 2001

Link: https://doi.org/10.1002/..

11

Maternal and Paternal Chromosomes 7 Show Differential Methy..:

Hannula, Katariina ; Lipsanen-Nyman, Marita ; Scherer, Stephen W....
Genomics. 73 (2001) 1 - p. 1-9 , 2001

Link: https://doi.org/10.1006/..

12

The congenital chloride diarrhea gene is expressed in semin..:

Haila, Siru ; Saarialho-Kere, Ulpu ; Karjalainen-Lindsberg, Marja-Liisa...
Histochemistry and Cell Biology. 113 (2000) 4 - p. 279-286 , 2000

Link: https://doi.org/10.1007/..

13

Molecular characterization of deletion at 11q22.1‐23.3 in m..:

Monni, Outi ; Zhu, Ying ; Franssila, Kaarle...
British Journal of Haematology. 104 (1999) 4 - p. 665-671 , 1999

Link: https://doi.org/10.1046/..

14

Clustering of private mutations in the congenital chloride ..:

Höglund, Pia ; Haila, Siru ; Gustavson, Karl-Henrik...
Human Mutation. 11 (1998) 4 - p. 321-327 , 1998

Link: https://doi.org/10.1002/..

15

A serine/threonine kinase gene defective in Peutz–Jeghers s..:

Hemminki, Akseli ; Markie, David ; Tomlinson, Ian...
Nature. 391 (1998) 6663 - p. 184-187 , 1998

Link: https://doi.org/10.1038/..