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Twenty-four new cases of WT1 germline mutations and review of the literature: Genotype/phenotype correlations for Wilms tumor development
American journal of medical genetics, 2004-06, Vol.127A (3), p.249-257
Royer-Pokora, Brigitte
Beier, Manfred
Henzler, Markus
Alam, Rita
Schumacher, Valérie
Weirich, Angela
Huff, Vicki
2004
Details
Autor(en) / Beteiligte
Royer-Pokora, Brigitte
Beier, Manfred
Henzler, Markus
Alam, Rita
Schumacher, Valérie
Weirich, Angela
Huff, Vicki
Titel
Twenty-four new cases of WT1 germline mutations and review of the literature: Genotype/phenotype correlations for Wilms tumor development
Ist Teil von
American journal of medical genetics, 2004-06, Vol.127A (3), p.249-257
Ort / Verlag
Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Erscheinungsjahr
2004
Link zum Volltext
Quelle
MEDLINE
Beschreibungen/Notizen
We report here 24 new Wilms tumor (WT) patients with germline WT1 alterations and a synopsis of our own previously described and literature cases in whom age of tumor‐onset, gender, and laterality were known. This combined database contains 282 patients, 117 patients with and 165 without WT1 germline alterations. Using this information we have determined the median age of tumor‐onset for patients with (12.5 months) and without WT1 gene alterations (36 months). The earliest onset was in patients with truncation (12 mo, 66 patients), followed by missense mutations (18 mo, 30 patients) and deletions (22 mo, 21 patients). Patients with the two most frequent nonsense mutations R362X and R390X and the Denys–Drash syndrome (DDS) hot spot mutation R394W/Q/L had a very early onset (9, 12, and 18 mo, respectively). The highest number of bilateral tumors was observed in the group of truncation mutations, with a higher percentage of bilateral tumors when truncations occurred in the 5′ half of the WT1 gene. In addition to genital tract anomalies (GU), early onset nephrotic syndrome with diffuse mesangial sclerosis and stromal‐predominant histology, tumor bilaterality, and early age of onset can now be added to the list of risk factors for carrying a germline WT1 mutation. © 2004 Wiley‐Liss, Inc.
Sprache
Englisch
Identifikatoren
ISSN: 1552-4825, 0148-7299
eISSN: 1552-4833, 1096-8628
DOI: 10.1002/ajmg.a.30015
Titel-ID: cdi_proquest_miscellaneous_71939881
Format
–
Schlagworte
Adolescent
,
Adult
,
age of onset
,
Aged
,
Aged, 80 and over
,
bilateral WT
,
Biological and medical sciences
,
Child
,
Female
,
Genes, Wilms Tumor
,
Genotype
,
Germ-Line Mutation
,
germline WT1 alterations
,
Humans
,
Kidneys
,
Male
,
Medical sciences
,
Middle Aged
,
Nephrology. Urinary tract diseases
,
Phenotype
,
Tumors of the urinary system
,
Wilms tumor (WT)
,
Wilms Tumor - genetics
,
WT1 genoptype/phenotype
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