All individuals with variants in gene PKD1

406 entries on 5 pages. Showing entries 1 - 100.
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00017058 - PubMed: Peral 1997 - ? - United Kingdom (Great Britain) - - 0 - - PKD1 - 1 1 Johan den Dunnen
00017059 - PubMed: Peral 1997 4-generation family ? - United Kingdom (Great Britain) - - 0 - - PKD1 ESRD onset 53y, affected brother/father died at 46y/42y, niece with renal cysts available for study 1 1 Johan den Dunnen
00017062 - PubMed: Peral 1997 large family, 3-generation ADPKD, proband with 5 affected children M no United Kingdom (Great Britain) - - 0 - - PKD1 - 1 1 Johan den Dunnen
00017063 - PubMed: Peral 1997 positive family history M no United Kingdom (Great Britain) - - 0 - - PKD1 - 1 1 Johan den Dunnen
00017932 - PubMed: European PKD Consortium 1994 3-generation family, 34 affecteds - no ? (unknown) - - 0 - - PKD1 - 1 4 Johan den Dunnen
00017933 - PubMed: European PKD Consortium 1994 3-generation family, 1 affected ? no ? (unknown) - - 0 - - PKD1 - 1 1 Johan den Dunnen
00017934 - PubMed: Turco 1995 3-generation family, 8 affecteds - no Italy - - 0 - - PKD1 - 1 8 Johan den Dunnen
00017935 - PubMed: Peral 1996 3 generations; 3 affected ind.; 4 unaffected ind. available for linkage analysis. Clin. info available 5 patients (2 now deceased); ? ? United Kingdom (Great Britain) - - 0 - - PKD1 3 in generation I age onset ESDR 57y, 54y, and 53y; generation II raised SC levels: 103 51y, 253 46y 1 5 Johan den Dunnen
00017936 - PubMed: Peral 1996 4 generation family, 3 affected cousins ? ? (United Kingdom (Great Britain)) - - 0 - - PKD1 1 ESRD at 61y, 1 raised SC of 153 at 58y, 1 has a normal SC level of 66 at 43y. 1 3 Johan den Dunnen
00017937 - PubMed: Peral 1996 2 generation family, 3 affected + 2 unaffected subjects. ? ? United Kingdom (Great Britain) - - 0 - - PKD1 Age ESRD 49y in affected mother (now deceased) and 42y in son. 2nd affected son has polycystic kidneys diagnosed on ultrasound. 1 1 Johan den Dunnen
00017938 - PubMed: Peral 1996 5 generations; 17 samples of at risk objects. ? ? United Kingdom (Great Britain) - - 0 - - PKD1 Age at death: generation II: 42y + 58y, Generation III: 44y, 55y, 56y, 61y, no ESRD. Age at ESRD: Generation II: 55y, Generation III: 65y, Generation IV: 51y, 48y. Generation II: 1 subject is approaching renal failure at 63y, SC level of 529. Generation IV: 2 ind. have elevated SC levels of 309 (53 y) and 326 (49y), 3 ind. in generation V have normal SC levels; 78 at 26y, 87 at 28y, 91 at 33y. 1 17 Johan den Dunnen
00017939 - PubMed: Peral 1996 4 generation family; 5 affected and 2 unaffected subjects available for study. ? ? ? (unknown) - - 0 - - PKD1 2 sub. reached renal failure at 61y (gen II) and 45y (gen III). 2 sub from gen III have near normal (90 at 47y) or significantly elevated SC levels (177 at 49y). 2 sub from gen IV have SC levels of 89 and 82 at 28y and 21y. 1 1 Johan den Dunnen
00017941 - PubMed: Peral 1996 3 generation family; dizygotic twin (M/F), unaffected (grand)parents ? ? (United Kingdom (Great Britain)) - - 0 - - PKD1 28y:bilateral, multiple renal cysts were detected in the father, asymptomatic and normal renal size + function; III2 is now 6y: kidneys continue to be enlarged (>95th centile), multiple cysts, since 2y: hypertensive renal function remains normal. 1 1 Johan den Dunnen
00017944 - PubMed: Peral 1997 positive family history but only living affected member F no United Kingdom (Great Britain) - - 0 - - PKD1 ESRD onset 53y; affected father, grandfather, cousin, great uncle had died at 48y, 63y, 43y, 60y 1 1 Johan den Dunnen
00017945 - PubMed: Peral 1997 - ? no United Kingdom (Great Britain) - - 0 - - PKD1 ESRD onset 47y, affected sister and three children, ages 28y, 23y and 22y with renal cysts but normal renal function 1 1 Johan den Dunnen
00017948 - PubMed: Peral 1997 positive family history, MZ twin daughters (4y) few cysts in each kidney M ? United Kingdom (Great Britain) - - 0 - - PKD1 33y elevated blood pressure, chronic renal disease; MZ twin daughters (4y) few cysts in each kidney, organs not enlarged, twins remained normotensive 1 1 Johan den Dunnen
00017949 - PubMed: Peral 1997 negative family history ? - United Kingdom (Great Britain) - - 0 - - PKD1 ESRD onset 57y, two daughters negative renal ultrasounds (37y and 34y) 1 1 Johan den Dunnen
00017950 - PubMed: Peral 1997 - ? - United Kingdom (Great Britain) - - 0 - - PKD1 - 1 1 Johan den Dunnen
00017954 - PubMed: Watnick 1997 3-generation family, individual has affected carrier brother, daughter, niece ? - (United States) - - 0 - - PKD1 - 1 4 Johan den Dunnen
00017955 FamJHU086 PubMed: Watnick 1997 - ? - United States German - 0 - - PKD1 - 5 1 Johan den Dunnen
00017956 - PubMed: Watnick 1997 - ? - (United States) - - 0 - - PKD1 - 1 1 Johan den Dunnen
00017957 - PubMed: Watnick 1997 - ? - United States - - 0 - - PKD1 - 2 1 Johan den Dunnen
00017960 FamJHU273 PubMed: Watnick 1997 4-generation family, 7 affecteds ? - United States - - 0 - - PKD1 - 6 7 Johan den Dunnen
00017961 - PubMed: Roelfsema 1997 - ? - Netherlands - - 0 - - PKD1 - 1 4 Johan den Dunnen
00017962 - PubMed: Roelfsema 1997 - ? - Netherlands - - 0 - - PKD1 - 1 1 Johan den Dunnen
00017963 - PubMed: Roelfsema 1997 - ? - Netherlands - - 0 - - PKD1 - 1 1 Johan den Dunnen
00017964 - PubMed: Roelfsema 1997 large multi-generation family (>75 individuals) probably linked to amily 133 ? - Netherlands - - 0 - - PKD1 - 1 10 Johan den Dunnen
00017965 - PubMed: Roelfsema 1997 4-generation family, 10 affecteds - no Netherlands - - 0 - - PKD1 - 1 10 Johan den Dunnen
00017966 - PubMed: Roelfsema 1997 multi-generation family - no Netherlands - - 0 - - PKD1 - 1 5 Johan den Dunnen
00017967 - PubMed: Roelfsema 1997 multi-generation family - no Netherlands - - 0 - - PKD1 - 1 4 Johan den Dunnen
00018043 - PubMed: Rossetti 2001 - ? - ? (unknown) - - 0 - - PKD1 - 1 3 Johan den Dunnen
00018062 - PubMed: Rossetti 2001 - ? - ? (unknown) - - 0 - - PKD1 - 1 7 Johan den Dunnen
00018063 - PubMed: Rossetti 2001 - ? - ? (unknown) - - 0 - - PKD1 - 1 2 Johan den Dunnen
00018064 - PubMed: Rossetti 2001 family, 2 affecteds ? - ? (unknown) - - 0 - - PKD1 family history of PKD 1 2 Johan den Dunnen
00018315 - PubMed: Tsukamoto 2008 mother of NPHP patient F no Japan - - 0 - - PKD1 - 1 1 Johan den Dunnen
00032340 - PubMed: Slavotinek 2015, Journal: Slavotinek 2015 patient, unaffected heterozygous carrier parents - ? United States - 00y07m 0 - - ? see paper; cerebral ventriculomegaly, echogenic kidneys with histopathological findings of congenital nephrosis, .. 1 1 Johan den Dunnen
00050133 - - large 4-generation family, 3 affected M no Italy white - 0 - - PKD1 prevalence of cerebrovascular disease 2 3 Paola Carrera
00058842 - Carrera et al., submitted large 4-generation family, 3 affecteds M no Italy white - 0 contributing lab 1 - PKD1 prevalence of cerebrovascular disease 2 1 Paola Carrera
00058843 - Carrera et al., submitted 4-generation family, 5 affected M no Italy white - 0 contributing lab 1 maintenance therapy PKD1 - 1 1 Paola Carrera
00058844 - Carrera et al., submitted - M - Italy white - 0 contributing lab 1 maintenance therapy PKD - 1 1 Paola Carrera
00058845 - Carrera et al., submitted large 5-generation family, 13 affecteds M - Italy white - 0 contributing lab 1 renal transplantation PKD1 - 1 1 Paola Carrera
00058846 - Carrera et al., submitted - M - Italy white - 0 contributing lab 2 - PKD1 - 1 1 Paola Carrera
00058847 - Carrera et al., submitted - M - Italy white - 0 contributing lab 1 - PKD1 - 1 1 Paola Carrera
00058848 - Carrera et al., submitted - M - Italy white - 0 contributing lab 1 - PKD1 - 1 1 Paola Carrera
00058849 - Carrera et al., submitted - F - Italy white - 0 contributing lab 1 - PKD1 no aneurysm 2 1 Paola Carrera
00058850 - Carrera et al., submitted large 5-generation family, 13 affecteds F - Italy white - 0 contributing lab 1 - PKD1 cerebral aneurysm 1 1 Paola Carrera
00058851 - Carrera et al., submitted large 4-generation family F - Italy white - 0 contributing lab 1 - PKD no aneurysm 2 1 Paola Carrera
00058852 - Carrera et al., submitted large 4-generation family F - Italy white - 0 contributing lab 1 - PKD1 - 1 1 Paola Carrera
00058853 - Carrera et al., submitted large 4-generation family M - Italy white - 0 contributing lab 1 - PKD - 2 1 Paola Carrera
00058854 - Carrera et al., submitted 3-generation family F - Italy white - 0 contributing lab 1 - PKD1 - 1 1 Paola Carrera
00058855 - Carrera et al., submitted 4-generation family M - Italy white - 0 contributing lab 1 - PKD - 1 1 Paola Carrera
00058856 - Carrera et al., submitted ? M - Italy white - 0 contributing lab 1 - PKD1 - 1 1 Paola Carrera
00058860 - Carrera et al., submitted 4-generation family F - Italy white - 0 contributing lab 1 - PKD1 - 1 1 Paola Carrera
00058861 - Carrera et al., submitted 4-generation family F - Italy white - 0 contributing lab 1 - PKD1 - 1 1 Paola Carrera
00058862 - Carrera et al., submitted 3-generation family F - Italy white - 0 contributing lab 1 - PKD1 no aneurysm 3 1 Paola Carrera
00058863 - Carrera et al., submitted ? F - Italy white - 0 contributing lab 1 - PKD1 - 1 1 Paola Carrera
00058864 - Carrera et al., submitted - M - Italy white - 0 contributing lab 1 - PKD1 no aneurysm 2 1 Paola Carrera
00058866 - Carrera et al., submitted - M - Italy white - 0 contributing lab 1 - PKD1 no aneurysm 2 1 Paola Carrera
00058867 - Carrera et al., submitted large 4-generation family F - Italy white - 0 contributing lab 1 - PKD1 - 1 1 Paola Carrera
00058868 - Carrera et al., submitted large 4-generation family M - Italy white - 0 contributing lab 1 - PKD1 - 1 1 Paola Carrera
00058869 - Carrera et al., submitted - M - Italy white - 0 contributing lab 1 - PKD1 - 1 1 Paola Carrera
00058870 - Carrera et al., submitted 3-generation family M - Italy white - 0 contributing lab 1 - PKD1 no aneurysm 3 1 Paola Carrera
00058871 - Carrera et al., submitted 4 generation family M no Italy white - 0 contributing lab 10 renal transplantation PKD age at ESRD 24y; cerebral aneurysm 1 1 Paola Carrera
00058872 - Carrera et al., submitted - F - Italy white - 0 contributing lab 1 - PKD1 - 1 1 Paola Carrera
00058873 - Carrera et al., submitted large 4-generation family F - Italy white - 0 contributing lab 1 - PKD1 - 2 1 Paola Carrera
00058874 - Carrera et al., submitted - M - Italy white - 0 contributing lab 1 - PKD - 2 1 Paola Carrera
00058875 - Carrera et al., submitted - M - Italy white - 0 contributing lab 1 - PKD1 - 2 1 Paola Carrera
00058876 - Carrera et al., submitted - F - Italy white - 0 contributing lab 1 - PKD1 hypertension 120/85 1 1 Paola Carrera
00058877 - Carrera et al., submitted - F - Italy white - 0 contributing lab 1 - PKD1 - 1 1 Paola Carrera
00058878 - Carrera et al., submitted - F - Italy white - 0 contributing lab 1 - PKD1 - 1 1 Paola Carrera
00058879 - Carrera et al., submitted 3-generation family M - Italy white - 0 contributing lab 1 - PKD1 no aneurysm 2 1 Paola Carrera
00058880 - Carrera et al., submitted - M - Italy white - 0 contributing lab 1 - PKD1 - 1 1 Paola Carrera
00058881 - Carrera et al., submitted - M - Italy white - 0 contributing lab 1 - PKD1 - 5 1 Paola Carrera
00058882 - Carrera et al., submitted - M - Italy white - 0 contributing lab 1 - PKD1 - 3 1 Paola Carrera
00058883 - Carrera et al., submitted - M - Italy white - 0 contributing lab 1 - PKD1 - 2 1 Paola Carrera
00058884 - Carrera et al., submitted - M - Italy white - 0 contributing lab 1 - PKD - 3 1 Paola Carrera
00058885 - Carrera et al., submitted - M - Italy white - 0 contributing lab 1 - PKD1 no aneurysm 1 1 Paola Carrera
00058886 - Carrera et al., submitted - M - Italy white - 0 contributing lab 1 - PKD1 no aneurysm 1 1 Paola Carrera
00058887 - Carrera et al., submitted - F - Italy white - 0 contributing lab 1 - PKD1 - 1 1 Paola Carrera
00058888 - Carrera et al., submitted ? M - Italy white - 0 contributing lab 1 - PKD1 - 2 1 Paola Carrera
00058889 - Carrera et al., submitted 2-generation family M - Italy white - 0 contributing lab 1 - PKD1 - 2 1 Paola Carrera
00058890 - Carrera et al., submitted large 2-generation family M - Italy white - 0 contributing lab 1 dyalisis PKD1 - 1 1 Paola Carrera
00058891 - Carrera et al., submitted ? F - Italy white - 0 contributing lab 1 - PKD1 - 1 1 Paola Carrera
00058892 - Carrera et al., submitted large-3 generation family M - Italy white - 0 contributing lab 1 - PKD1 - 1 1 Paola Carrera
00058893 - Carrera et al., submitted - M - Italy white - 0 contributing lab 1 - PKD1 - 1 1 Paola Carrera
00058894 - Carrera et al., submitted - M - Italy white - 0 contributing lab 1 - PKD1 - 3 1 Paola Carrera
00058895 - Carrera et al., submitted large-3 generation family M - Italy white - 0 contributing lab 3 - PKD1 - 2 1 Paola Carrera
00058896 - Carrera et al., submitted large-3 generation family F - Italy white - 0 contributing lab 3 - PKD1 - 1 1 Paola Carrera
00058897 - Carrera et al., submitted large-3 generation family M - Italy white - 0 contributing lab 3 - PKD1 - 2 1 Paola Carrera
00058898 - Carrera et al., submitted 3 generation family F - Philippines asian - 0 contributing lab 3 - PKD1 - 2 1 Paola Carrera
00058899 - Carrera et al., submitted 3 generation family M - Congo african - 0 contributing lab 3 - PKD - 2 1 Paola Carrera
00058900 - Carrera et al., submitted 3 generation family M - Italy white - 0 contributing lab 3 - PKD1 - 1 1 Paola Carrera
00058901 - Carrera et al., submitted 3 generation family M - Italy white - 0 contributing lab 3 - PKD1 - 2 1 Paola Carrera
00058902 - Carrera et al., submitted 3 generation family F - Italy white - 0 contributing lab 3 - PKD1 - 2 1 Paola Carrera
00058903 - Carrera et al., submitted 3 generation family M - Italy white - 0 contributing lab 3 - PKD1 - 2 1 Paola Carrera
00058904 - Carrera et al., submitted 3 generation family F - Italy white - 0 contributing lab 4 - PKD1 - 1 1 Paola Carrera
00058905 - Carrera et al., submitted 3 generation family F - Italy white - 0 contributing lab 4 - PKD1 - 1 1 Paola Carrera
00058906 - Carrera et al., submitted 3 generation family F - Italy white - 0 contributing lab 3 - PKD1 - 2 1 Paola Carrera
00058907 - Carrera et al., submitted 3 generation family F - Italy white - 0 contributing lab 3 - PKD1 - 1 1 Paola Carrera
00058908 - Carrera et al., submitted 3 generation family F - Italy white - 0 contributing lab 5 - PKD1 - 2 1 Paola Carrera
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