Výsledky vyhledávání - "M H, Breuning"

[From gene to disease; PKHD1 and recessive polycystic kidney disease]

Autor: D J M, Peters, M, Losekoot, C E M, de Die-Smulders, M, Stevens-Baldewijns, M H, Breuning

Publikováno v: Nederlands tijdschrift voor geneeskunde. 149(9)

Autosomal recessive polycystic kidney disease (ARPKD) is a severe form of polycystic kidney disease characterised by enlarged kidneys and congenital hepatic fibrosis. The disease has an incidence of 1:7000-:20,000 and is caused by mutations in the PK

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::3a6056046c76a1f2d532bb460a4db80f
https://pubmed.ncbi.nlm.nih.gov/15771341

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[From gene to disease; from CLN1, CLN2 and CLN3 to neuronal ceroid lipofuscinosis]

Autor: P E M, Taschner, M, Losekoot, M H, Breuning, I, Hofman, O P, van Diggelen

Publikováno v: Nederlands tijdschrift voor geneeskunde. 149(6)

The neuronal ceroid lipofuscinoses (NCL) are worldwide the most common lysosomal storage disorders of childhood. Clinical features often include progressive visual impairment, seizures, psychomotor deterioration, dementia, and premature death. Most N

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::29ec3909347d120205fa817d9b2a4fdc
https://pubmed.ncbi.nlm.nih.gov/15730038

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[Molecular diagnosis on indication of maturity onset diabetes of the young; results from 184 patients]

Autor: M, Losekoot, A J, Broekman, M H, Breuning, E J P, de Koning, J A, Romijn, J A, Maassen

Publikováno v: Nederlands tijdschrift voor geneeskunde. 149(3)

To describe the results of mutation analysis of the genes involved in maturity onset diabetes of the young (MODY) types 1-3.Descriptive.In the period July 2000-October 2003 the DNA from 184 possible MODY patients was analysed for the presence of muta

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::8fa4c8343a8914a3326acf6d8da5b028
https://pubmed.ncbi.nlm.nih.gov/15693590

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Risk estimation for healthy women from breast cancer families: new insights and new strategies

Autor: Christi J, van Asperen, M A, Jonker, C E, Jacobi, J E M, van Diemen-Homan, E, Bakker, M H, Breuning, J C, van Houwelingen, G H, de Bock

Publikováno v: Cancer epidemiology, biomarkersprevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology. 13(1)

Risk estimation in breast cancer families is often estimated by use of the Claus tables. We analyzed the family histories of 196 counselees; compared the Claus tables with the Claus, the BRCA1/2, the BRCA1/2/ models; and performed linear regression a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::d0f2946119b91f3d5e730598623ac139
https://pubmed.ncbi.nlm.nih.gov/14744738

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[From gene to disease; SLC3A1, SLC7A9 and cystinuria]

Autor: M H, Breuning, N A T C, Hamdy

Publikováno v: Nederlands tijdschrift voor geneeskunde. 147(6)

In total, 1-2% of adults and 6-8% of children suffering from kidney stones have cystinuria, a defect in the transport of amino acids, which leads to high concentrations of cystine in the urine. Two genes have been implicated, solute carrier family 3

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::52d76710503d86f80dafac0503ab4c05
https://pubmed.ncbi.nlm.nih.gov/12848061

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[Phenotypic variability: genetics and chance--deletion 22q11 and schizophrenia]

Autor: M H, Breuning

Publikováno v: Nederlands tijdschrift voor geneeskunde. 146(43)

Haploinsufficiency syndromes, such as the deletion 22q11, the velo-cardio-facial or DiGeorge/Shprintzen syndrome characterised by chromosome 22q11 deletion, show marked variability in the clinical features. This variability may be due to chance fluct

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::cc2c22eedb9fefcfd4492c1e7a850bfe
https://pubmed.ncbi.nlm.nih.gov/12428463

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