Frasier syndrome with childhood-onset renal failure

Hormone Research

Volumn 55, Issue 2, 2001, Pages 77-80

  Buzi, Fabio ^a   Mella, P ^a   Pilotta, A ^a   Felappi, B ^a   Camerino, G ^b   Notarangelo, L D ^a  

^a UNIVERSITY OF BRESCIA   (Italy)

^b UNIVERSITY OF PAVIA   (Italy)

Author keywords

Amenorrhoea; Frasier syndrome; Male pseudohermaphroditism; Nephrosis; Renal failure; Sex reversal; Wilms' tumour; WT1

Indexed keywords

ADENINE; GUANINE;

ADULT; AMENORRHEA; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CHROMOSOME ANALYSIS; CLINICAL FEATURE; FEMALE; FRASIER SYNDROME; GENETIC ANALYSIS; GLOMERULONEPHRITIS; HUMAN; INTRON; KIDNEY FAILURE; KIDNEY TRANSPLANTATION; LABORATORY TEST; NEPHROBLASTOMA; PRIORITY JOURNAL;

ADULT; ALTERNATIVE SPLICING; GENES, WILMS TUMOR; GLOMERULONEPHRITIS; HUMANS; KARYOTYPING; KIDNEY FAILURE; KIDNEY TRANSPLANTATION; MALE; MUTATION; PHENOTYPE; SEX DIFFERENTIATION DISORDERS; STREPTOCOCCAL INFECTIONS; SYNDROME;

EID: 0034885188     PISSN: 03010163     EISSN: None     Source Type: Journal    
DOI: 10.1159/000049974     Document Type: Article

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2. The genomic organisation and expression of the WT1 gene
3. Role for the Wilms' tumour gene in genital development?
4. Germline mutations in the Wilms' tumour suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome
5. Frasier syndrome is caused by defective alternative splicing leading to an altered ratio of WT1+/-KTS splicing isoforms
6. Association d'un syndrome anatomo-pathologique de pseudohermaphroditisme masculin, d'une tumeur de Wilms, d'un néphropathie parenchymateuse et d'un mosaïcism XX/XY
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8. Gonadoblastoma associated with pure gonadal dysgenesis in monozygotic twins
9. A clinical overview of WT1 gene mutations
10. Donor site-splice mutations in WT1 are responsible for Frasier syndrome
11. Chronic renal failure and XY gonadal dysgenesis: 'Frasier ' syndrome - A commentary on reported cases
12. Frasier syndrome, part of he Denys-Drash continuum or simply a WT1 gene-associated disorder of intersex and nephropathy?
13. Do intronic mutations affecting splicing of WT1 exon 9 cause Frasier syndrome?
14. Alternative splicing and genomic structure of the Wilms' tumour gene WT1
15. Exon 9 mutations in the WT1 gene, without influencing KTS splice isoforms, are also responsible for Frasier syndrome
16. Frasier syndrome: A cause of focal segmental glomerulosclerosis in a 46,XX female
17. Mother-to-child transmitted WT1 splice-site mutation is responsible for distinct glomerular diseases