Výsledky vyhledávání - "Ann Christin Gjerstad"

Heterozygous variants in the DVL2 interaction region of DACT1 cause CAKUT and features of Townes–Brocks syndrome 2

Publikováno v: Human Genetics. 142:73-88

Most patients with congenital anomalies of the kidney and urinary tract (CAKUT) remain genetically unexplained. In search of novel genes associated with CAKUT in humans, we applied whole-exome sequencing in a patient with kidney, anorectal, spinal, a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::c147a282a46f5c1927ea9ad7c2d80c9c
https://doi.org/10.1007/s00439-022-02481-6

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Kidney biopsy diagnosis in childhood in the Norwegian Kidney Biopsy Registry and the long-term risk of kidney replacement therapy: a 25-year follow-up

Autor: Ann Christin Gjerstad, Rannveig Skrunes, Camilla Tøndel, Anders Åsberg, Sabine Leh, Claus Klingenberg, Henrik Døllner, Clara Hammarstrøm, Anna Kristina Bjerre

Publikováno v: Pediatric nephrology
Pediatric nephrology (Berlin, West)

Background There is scarce information on biopsy-verified kidney disease in childhood and its progression to chronic kidney disease stage 5 (CKD 5). This study aims to review biopsy findings in children, and to investigate risk of kidney replacement

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a5f610427fbc548ecb85a440100d24f
https://hdl.handle.net/11250/3022085

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Rare heterozygous GDF6 variants in patients with renal anomalies

Autor: Anne Christians, Soeren S. Lienkamp, Maike Getwan, Ruthild G. Weber, Robert Geffers, Imke Hennies, Zoran Gucev, Arne Christians, Frank Brand, Andreas Kispert, Anna-Carina Weiss, Ann Christin Gjerstad, Helge Martens, Dieter Haffner, Velibor Tasic, Tomáš Seeman, Anna Bjerre

Publikováno v: European journal of human genetics : EJHG
England
European Journal of Human Genetics

Although over 50 genes are known to cause renal malformation if mutated, the underlying genetic basis, most easily identified in syndromic cases, remains unsolved in most patients. In search of novel causative genes, whole-exome sequencing in a patie

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf554eb4342b38ec7820ace43d47ed80
https://hdl.handle.net/10033/622498

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Neurogenic bladder dysfunction in children

Autor: Petra, Aden, Ann Christin, Gjerstad, Hans, Skari, Anine, Lie, Anna, Bjerre

Publikováno v: Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke. 140(3)

Neurogenic bladder dysfunction is the cause of a small proportion of urinary problems in children. Various neurological conditions can result in a change in neural control of the bladder, and also the colon. Some of these conditions are apparent at b

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::9a24a80addd6b6117ad02b8e80bc081c
https://pubmed.ncbi.nlm.nih.gov/32105040

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Lower urinary tract dysfunction in children - a practical approach

Autor: Anine, Lie, Ann Christin, Gjerstad, Vibeke, Fossum, Cathrine, Teigen, Hans, Skari, Petra, Aden, Anna, Bjerre

Publikováno v: Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke. 140(2)

More than 10 % of schoolchildren suffer from lower urinary tract dysfunction, often leading to contact with the healthcare system. The problem is socially limiting as well as mentally and physically demanding for children and their parents, and it is

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::31b0240781de11c0f8dc632716ddcec5
https://pubmed.ncbi.nlm.nih.gov/32026859

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