Mutations in the Wilms' tumor 1 gene cause isolated steroid resistant nephrotic syndrome and occur in exons 8 and 9

Pediatric Research

Volumn 59, Issue 2, 2006, Pages 325-331

  Mucha, Bettina ^a,b   Ozaltin, Fatih ^a,c   Hinkes, Bernward G ^a   Hasselbacher, Katrin ^a   Ruf, Rainer G ^d   Schultheiss, Michael ^e   Hangan, Daniela ^a   Hoskins, Bethan E ^a   Everding, Anne Schulze ^f   Bogdanovic, Radovan ^g   Seeman, Thomas ^h   Hoppe, Bernd ⁱ   Hildebrandt, Friedhelm ^a,j   Thaarup, J ^k   Noyan, A ^k   Bakkaloglu, A ^k   Kalman, S ^k   Hopcian, J ^k   Van Hoeck, K ^k   Gorman, G ^k   Burkhalter, F ^k   Descoendres, B ^k   Mayr, M ^k   Peco Antic, A ^k   Putnik, J ^k   Stajic, N ^k   Briese, S ^k   Gellermann, J ^k   Querfeld, U ^k   Bachmann, H ^k   Springate, J ^k   Reusz, G ^k   Goldberg, A ^k   Licht, C ^k   Michalk, D ^k   Stapenhorst, L ^k   Gahr, M ^k   Kvaldova, G ^k   Laass M ^k   Rascher, W ^k   Hoyer, P ^k   Neyer, U ^k   Brandis, M ^k   Fuchshuber, A ^k   Von Schnakenburg, C ^k   Mache, C ^k   Patzer, L ^k   Kemper, M ^k   Muller Wiefel D E ^k   Ehrich, J H H ^k   Hohmann, D ^k   Offner, G ^k   Skalova, S ^k   Schafer F ^k   Knuppel T ^k   Mehls, O ^k   Tonshoff B ^k   Wenning, D ^k   Patzer, H ^k   Ronnefarth G ^k   Cohen Becker, R ^k   Scheinman, J ^k   Hashmi, S ^k   Eggert, P ^k   Ettenger, R ^k   Rangel, L ^k   Wygoda, S ^k   Beetz, R ^k   Anacleto, F ^k   Fehrenbach, H ^k   Timmermann, K ^k   Griebel, M ^k   Filler, G ^k   Pavicevic, S ^k   Muscheites, J ^k   Warnecke, G ^k   Benador, N ^k   Monterrode Pina Neto, J ^k   Lilova, M ^k   Bald, M ^k   Holder, M ^k   Leichter, H ^k   Zolotnitskaya, A ^k   Weiss, R ^k   Pollak, A ^k   Laube, G ^k   Neuhaus, T ^k   more..

^a UNIVERSITY OF MICHIGAN   (United States)

^b ALBANY MEDICAL CENTER   (United States)

^c HACETTEPE UNIVERSITY   (Turkey)

^d CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^e UNIVERSITY OF FREIBURG   (Germany)

^f UNIVERSITY HOSPITAL MÜNSTER   (Germany)

^g Institute for Mother and Child Health   (Serbia)

^h UNIVERSITY HOSPITAL MOTOL   (Czech Republic)

ⁱ UNIVERSITY HOSPITAL OF COLOGNE   (Germany)

^j UNIVERSITY OF MICHIGAN HEALTH SYSTEM   (United States)

^k NONE

more..

Author keywords

[No Author keywords available]

Indexed keywords

PODOCIN; PRIMER DNA; STEROID;

ADOLESCENT; ARTICLE; CLINICAL FEATURE; COHORT ANALYSIS; DISEASE ASSOCIATION; DISEASE COURSE; EXON; FAMILIAL DISEASE; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; HUMAN; INFANT; INTRON; KIDNEY FAILURE; MAJOR CLINICAL STUDY; MALE; NEPHROBLASTOMA; NEPHROTIC SYNDROME; NPHS2 GENE; ONSET AGE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEINURIA; SCHOOL CHILD; STEROID RESISTANT NEPHROTIC SYNDROME; WT1 GENE; AMINO ACID SEQUENCE; GENETICS; GENOTYPE; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; PHENOTYPE; SEQUENCE HOMOLOGY; TUMOR SUPPRESSOR GENE;

AMINO ACID SEQUENCE; BASE SEQUENCE; COHORT STUDIES; DNA PRIMERS; EXONS; FEMALE; GENES, WILMS TUMOR; GENOTYPE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; NEPHROTIC SYNDROME; PEDIGREE; PHENOTYPE; SEQUENCE HOMOLOGY, AMINO ACID; STEROIDS;

EID: 33646682170     PISSN: 00313998     EISSN: None     Source Type: Journal    
DOI: 10.1203/01.pdr.0000196717.94518.f0     Document Type: Article

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