All individuals with variants in gene WT1

44 entries on 1 page. Showing entries 1 - 44.
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00019916 - PubMed: Bullich 2015, Journal: Bullich 2015 - - - Spain - - - - - ? - 1 1 Elisabet Ars Criach
00037431 - - - - - Germany - - - - - ? suspected familiar mamma- and ovarian cancer, Wilms tumour 1 1 Andreas Laner
00037432 - - - - - Germany - - - - - ? suspected familiar mamma- and ovarian cancer, Wilms tumour 1 1 Andreas Laner
00037433 - - - - - Germany - - - - - ? three month old patient born with genital abnormalities, hypertension, nephropathy and in whom we suspect incomplete Denys Drash syndrome, penoscrotal hypospadia, karyotype 46,XY, UZ: hypoechogene renal parenchyma 1 1 Andreas Laner
00037434 - - - - - Germany - - - - - ? three month old patient born with genital abnormalities, hypertension, nephropathy and in whom we suspect incomplete Denys Drash syndrome, penoscrotal hypospadia, karyotype 46,XY, UZ: hypoechogene renal parenchyma 1 1 Andreas Laner
00037435 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00038724 - - - M ? - - - - - - WT1 - 1 1 Irene (Eirini) Fylaktou
00204202 - Journal: Regev 2008 - M no Israel Indian - - - - DDS Son, 46, XY, ambiguous genitalia and ventricular septal defect. Laparoscopy performed at 1 year for undescended testes - bilateral fallopian tubes and right fimbriae, no uterus, left gonad looked like a testicle, right one like an ova-testis. No Wilms tumor at 6 years of age. 1 1 Olga Beltcheva
00204203 - Journal: Regev 2008 Eight failed in vitro fertilization attempts, one child born following spontaneous pregnancy F ? Israel India - - - - WT1 Wilms tumor removed at 16 months 1 1 Olga Beltcheva
00204204 - Journal: Wang 2004 - M ? China Chinese - - - - HYSP3 - 1 1 Olga Beltcheva
00204205 - - - - - - - - - - - NPHS4 - 1 1 Elisabet Ars Criach
00204206 - Journal: Uschkereit 2007 - F ? Spain - - - - - WT1 10?month?old 46, XX karyotype female patient with large bilateral kidney tumours 1 1 Olga Beltcheva
00204207 - Journal: Little 2004 - F ? United Kingdom (Great Britain) - - - - - WT1 unilateral 1 1 Olga Beltcheva
00204208 - PubMed: Löbbert 1998 - F ? Germany - - - - - WT1 46XX girl with bilateral Wilms’ tumor of ?redominant stromal histology 1 1 Olga Beltcheva
00204209 - PubMed: Schumacher 1997 - F ? Germany - - - - - WT1 unilateral blastemal–predominant nephroblastoma 1 1 Olga Beltcheva
00204210 - PubMed: Schumacher 1997 - F ? Germany - - - - - WT1 unilateral stromal–predominan stromal–predominan 1 1 Olga Beltcheva
00204211 - PubMed: Chernin 2010 - - - United States - - - - - DDS Renal biopsy 1 1 Olga Beltcheva
00204212 - - - M - - - - - - - DDS Male (XY) with female genitalia with clitoromegaly, labial fusion. Gonadal hystology demonstrates the presence of testes. 1 1 Olga Beltcheva
00204213 - PubMed: Clarkson;PubMed: Little - - - - - - - - - DDS Male - 46XY, cryptorchidism, perineal hypospadias, Wilms tumour and diffuse mesangial sclerosis 1 1 Olga Beltcheva
00204214 - PubMed: Pelletier Right gonad-dysgenic testis; Left gonad-streak; No MQIlerian structures; No Wolffian structures - - - - - - - - DDS 46XY patient with nephropathy and gonadoblastoma 1 1 Olga Beltcheva
00204215 - PubMed: Chernin 2010 - - - United States - - - - - DDS DMS 1 1 LOVD
00204216 - PubMed: Pelletier No Mulerian structures; Left Wolffian structures - - - - - - - - DDS 46 XY patient woth ambiguous genitalia, Wilms tumor and gondaoblastoma 1 1 Olga Beltcheva
00204217 - PubMed: Clarkson,PubMed: Baird Histological examination of renal biopsy showed diffuse mesangial sclerosis; laparotomy demostrated internal female genitalia M - - - - - - - DDS Male patient (46,XY) born with normal external female genitalia, presented with nephroticsyndrome. 1 1 Olga Beltcheva
00204218 - PubMed: Pelletier - - - - - - - - - DDS Ambiguous genitalia, nephropathy 1 1 Olga Beltcheva
00204219 - PubMed: Pelletier Right gonad-dysgenic testis; Left gonad-dysgenic testis; Bilateral Mu11erian, No Wolffian structures - - - - - - - - DDS 46 XY, Ambiguou genitalia, Wilms tumor, gonadoblastoma 1 1 Olga Beltcheva
00204220 - PubMed: Pelletier - F - - - - - - - DDS Nephropathy, bilateral Wilms tumor 1 1 Olga Beltcheva
00204221 - PubMed: Pelletier Right gonad-dysgenic testis; Left gonad-normal testis; Bicornuated uterus - - - - - - - - DDS 46XY patient with ambiguous, nepropathy, bilateral Wilms tumor 1 1 Olga Beltcheva
00204222 - PubMed: Pelletier Normaol vary attached to anterior pole of kidney; normal uterus - - - - - - - - DDS 46XX patient with nepropathy and Wilms tumor 1 1 Olga Beltcheva
00204223 - PubMed: Pelletier Right gonad-dysgenic; Left gonad-streak; Normal fallopian tubes, uterus and vagina - - - - - - - - DDS 46XX patient with nepropathy and Wilms tumor 1 1 Olga Beltcheva
00204224 - PubMed: Pelletier Right gonads-dysgenic testis; Left gonad-dysgenic testis - - - - - - - - DDS 46XY patient with ambiguous genitalia, nepropathy and Wilms tumor 1 1 Olga Beltcheva
00204225 - Journal: Beltcheva 2010 female sex confirmed with multiplex QF-PCR F ? Bulgaria Bulgarian - - - - NPHS4 steroid-resistant nephrotic syndrome 1 1 Olga Beltcheva
00204226 - PubMed: Pelletier - - - - - - - - - DDS 46XX patient with nephropathy 1 1 Olga Beltcheva
00231285 Pat166 PubMed: Eggers 2016 - M - - - - - - - DSD see paper; …, 46,XY disorder of sex development (unknown origin) 1 1 Johan den Dunnen
00231489 Pat153 PubMed: Eggers 2016 - rF - - - - - - - DSD disorder of sex development, renal failure 1 1 Johan den Dunnen
00231515 Pat210 PubMed: Eggers 2016 - - - - - - - - - DSD partial gonadal dysgenesis 1 1 Johan den Dunnen
00248421 - - - M - - - - - - - - HP:0008643 (Nephroblastomatosis); HP:0002667 (Nephroblastoma (Wilms tumor)) 1 1 Andreas Laner
00266479 - - - - - Argentina Argentina - - - - cancer posterior fossa hemangioblastoma; no family history 2 1 Maximiliano Zeballos
00305968 - - - M no Romania - - - - - Frasier - 1 1 Matthias Braunisch
00307257 Patient 62 PubMed: Mendonca 2021 - M - Brazil - - - - - RB1 Unilateral 1 1 Vanessa Mendonça
00320143 - - - M - - - - - - - ? Cryptorchidism (HP:0000028); Hypospadias (HP:0000047) 1 1 IMGAG
00386502 - PubMed: Nair 2018 patient - - Lebanon - - - - - ? nephrotic syndrome (renal) 1 1 Johan den Dunnen
00414414 WHP81 PubMed: Sun 2018 - F - China - - - - - ? Denys-Drash syndrome; Meacham Syndrome; Frasier syndrome 1 1 LOVD
00448547 - - - M no Egypt - - - - - NPHS - 1 1 Mohamed A. Elmonem
00449815 - - - M - - (not applicable) white - - - - ? HP:0000037 1 1 Marketa Wayhelova
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