Etiology
Gafner M,
Garel C,
Leibovitz Z,
Valence S,
Krajden Haratz K,
Oegema R,
Mancini GMS,
Heron D,
Bueltmann E,
Burglen L,
Rodriguez D,
Huisman TAGM,
Lequin MH,
Arad A,
Kidron D,
Muqary M,
Gindes L,
Lev D,
Boltshauser E,
Lerman-Sagie T
AJNR Am J Neuroradiol
2023 Mar;44(3):334-340.
Epub 2023 Feb 23
doi: 10.3174/ajnr.A7805.
PMID: 36822823Free PMC Article
Best S,
Lord J,
Roche M,
Watson CM,
Poulter JA,
Bevers RPJ,
Stuckey A,
Szymanska K,
Ellingford JM,
Carmichael J,
Brittain H,
Toomes C,
Inglehearn C,
Johnson CA,
Wheway G;
Genomics England Research Consortium
J Med Genet
2022 Aug;59(8):737-747.
Epub 2021 Oct 29
doi: 10.1136/jmedgenet-2021-108065.
PMID: 34716235Free PMC Article
Tang X,
Liu C,
Liu X,
Chen J,
Fan X,
Liu J,
Ma D,
Cao G,
Chen Z,
Xu D,
Zhu Y,
Jiang X,
Cheng L,
Wu Y,
Hou L,
Li Y,
Shao X,
Zheng S,
Zhang A,
Zheng B,
Jian S,
Rong Z,
Su Q,
Gao X,
Rao J,
Shen Q,
Xu H;
Chinese Children Genetic Kidney Disease Database (CCGKDD);
“Internet Plus” Nephrology Alliance of the National Center for Children’s Care
J Med Genet
2022 Feb;59(2):147-154.
Epub 2020 Dec 15
doi: 10.1136/jmedgenet-2020-107184.
PMID: 33323469
Thomas S,
Legendre M,
Saunier S,
Bessières B,
Alby C,
Bonnière M,
Toutain A,
Loeuillet L,
Szymanska K,
Jossic F,
Gaillard D,
Yacoubi MT,
Mougou-Zerelli S,
David A,
Barthez MA,
Ville Y,
Bole-Feysot C,
Nitschke P,
Lyonnet S,
Munnich A,
Johnson CA,
Encha-Razavi F,
Cormier-Daire V,
Thauvin-Robinet C,
Vekemans M,
Attié-Bitach T
Am J Hum Genet
2012 Aug 10;91(2):372-8.
doi: 10.1016/j.ajhg.2012.06.017.
PMID: 22883145Free PMC Article
Hodgkins PR,
Harris CM,
Shawkat FS,
Thompson DA,
Chong K,
Timms C,
Russell-Eggitt I,
Taylor DS,
Kriss A
Dev Med Child Neurol
2004 Oct;46(10):694-9.
doi: 10.1017/s0012162204001161.
PMID: 15473174
Diagnosis
Gafner M,
Garel C,
Leibovitz Z,
Valence S,
Krajden Haratz K,
Oegema R,
Mancini GMS,
Heron D,
Bueltmann E,
Burglen L,
Rodriguez D,
Huisman TAGM,
Lequin MH,
Arad A,
Kidron D,
Muqary M,
Gindes L,
Lev D,
Boltshauser E,
Lerman-Sagie T
AJNR Am J Neuroradiol
2023 Mar;44(3):334-340.
Epub 2023 Feb 23
doi: 10.3174/ajnr.A7805.
PMID: 36822823Free PMC Article
Harion M,
Qebibo L,
Riquet A,
Rougeot C,
Afenjar A,
Garel C,
Louha M,
Lacaze E,
Audic-Gérard F,
Barth M,
Berquin P,
Bonneau D,
Bourdain F,
Busa T,
Colin E,
Cuisset JM,
Des Portes V,
Dorison N,
Francannet C,
Héron B,
Laroche C,
Lebrun M,
Métreau J,
Odent S,
Pasquier L,
Trujillo YP,
Perrin L,
Pinson L,
Rivier F,
Sigaudy S,
Thauvin-Robinet C,
Louvier UW,
Labayle O,
Rodriguez D,
Valence S,
Burglen L
J Med Genet
2023 Jun;60(6):578-586.
Epub 2022 Nov 1
doi: 10.1136/jmg-2022-108754.
PMID: 36319078
Tang X,
Liu C,
Liu X,
Chen J,
Fan X,
Liu J,
Ma D,
Cao G,
Chen Z,
Xu D,
Zhu Y,
Jiang X,
Cheng L,
Wu Y,
Hou L,
Li Y,
Shao X,
Zheng S,
Zhang A,
Zheng B,
Jian S,
Rong Z,
Su Q,
Gao X,
Rao J,
Shen Q,
Xu H;
Chinese Children Genetic Kidney Disease Database (CCGKDD);
“Internet Plus” Nephrology Alliance of the National Center for Children’s Care
J Med Genet
2022 Feb;59(2):147-154.
Epub 2020 Dec 15
doi: 10.1136/jmedgenet-2020-107184.
PMID: 33323469
Büscher R,
Büscher AK,
Cetiner M,
Treckmann JW,
Paul A,
Vester U,
Hoyer PF
Pediatr Transplant
2015 Dec;19(8):858-65.
Epub 2015 Sep 5
doi: 10.1111/petr.12595.
PMID: 26341656
Hodgkins PR,
Harris CM,
Shawkat FS,
Thompson DA,
Chong K,
Timms C,
Russell-Eggitt I,
Taylor DS,
Kriss A
Dev Med Child Neurol
2004 Oct;46(10):694-9.
doi: 10.1017/s0012162204001161.
PMID: 15473174
Therapy
Kloka J,
Blum LV,
Piekarski F,
Zacharowski K,
Raimann FJ
Am J Case Rep
2020 Aug 7;21:e923018.
doi: 10.12659/AJCR.923018.
PMID: 32764531Free PMC Article
Seo H,
Kwon EJ,
You YA,
Park Y,
Min BJ,
Yoo K,
Hwang HS,
Kim JH,
Kim YJ
BMC Med Genomics
2018 Jan 24;11(1):4.
doi: 10.1186/s12920-018-0323-4.
PMID: 29368655Free PMC Article
Strongin A,
Heller T,
Doherty D,
Glass IA,
Parisi MA,
Bryant J,
Choyke P,
Turkbey B,
Daryanani K,
Yildirimli D,
Vemulapalli M,
Mullikin JC,
Malicdan MC,
Vilboux T,
Gahl WA,
Gunay-Aygun M;
NISC Comparative Sequencing Program
J Pediatr Gastroenterol Nutr
2018 Mar;66(3):428-435.
doi: 10.1097/MPG.0000000000001816.
PMID: 29112083Free PMC Article
Maria BL,
Quisling RG,
Rosainz LC,
Yachnis AT,
Gitten J,
Dede D,
Fennell E
J Child Neurol
1999 Jun;14(6):368-76.
doi: 10.1177/088307389901400605.
PMID: 10385844
Prognosis
Best S,
Lord J,
Roche M,
Watson CM,
Poulter JA,
Bevers RPJ,
Stuckey A,
Szymanska K,
Ellingford JM,
Carmichael J,
Brittain H,
Toomes C,
Inglehearn C,
Johnson CA,
Wheway G;
Genomics England Research Consortium
J Med Genet
2022 Aug;59(8):737-747.
Epub 2021 Oct 29
doi: 10.1136/jmedgenet-2021-108065.
PMID: 34716235Free PMC Article
Vinod S,
Ghaly E,
Cruz Soriano P,
Sampath H,
February M,
Gupta A
J Neonatal Perinatal Med
2020;13(4):587-591.
doi: 10.3233/NPM-180144.
PMID: 32651337
Büscher R,
Büscher AK,
Cetiner M,
Treckmann JW,
Paul A,
Vester U,
Hoyer PF
Pediatr Transplant
2015 Dec;19(8):858-65.
Epub 2015 Sep 5
doi: 10.1111/petr.12595.
PMID: 26341656
Tory K,
Lacoste T,
Burglen L,
Morinière V,
Boddaert N,
Macher MA,
Llanas B,
Nivet H,
Bensman A,
Niaudet P,
Antignac C,
Salomon R,
Saunier S
J Am Soc Nephrol
2007 May;18(5):1566-75.
Epub 2007 Apr 4
doi: 10.1681/ASN.2006101164.
PMID: 17409309
Hodgkins PR,
Harris CM,
Shawkat FS,
Thompson DA,
Chong K,
Timms C,
Russell-Eggitt I,
Taylor DS,
Kriss A
Dev Med Child Neurol
2004 Oct;46(10):694-9.
doi: 10.1017/s0012162204001161.
PMID: 15473174
Clinical prediction guides
Lo CH,
Liu Z,
Chen S,
Lin F,
Berneshawi AR,
Yu CQ,
Koo EB,
Kowal TJ,
Ning K,
Hu Y,
Wang WJ,
Liao YJ,
Sun Y
J Clin Invest
2024 Jul 1;134(13)
doi: 10.1172/JCI175560.
PMID: 38949024Free PMC Article
Leggatt G,
Cheng G,
Narain S,
Briseño-Roa L,
Annereau JP;
Genomics England Research Consortium,
Gast C,
Gilbert RD,
Ennis S
Sci Rep
2023 Jun 9;13(1):9369.
doi: 10.1038/s41598-023-32169-4.
PMID: 37296294Free PMC Article
Best S,
Lord J,
Roche M,
Watson CM,
Poulter JA,
Bevers RPJ,
Stuckey A,
Szymanska K,
Ellingford JM,
Carmichael J,
Brittain H,
Toomes C,
Inglehearn C,
Johnson CA,
Wheway G;
Genomics England Research Consortium
J Med Genet
2022 Aug;59(8):737-747.
Epub 2021 Oct 29
doi: 10.1136/jmedgenet-2021-108065.
PMID: 34716235Free PMC Article
Tang X,
Liu C,
Liu X,
Chen J,
Fan X,
Liu J,
Ma D,
Cao G,
Chen Z,
Xu D,
Zhu Y,
Jiang X,
Cheng L,
Wu Y,
Hou L,
Li Y,
Shao X,
Zheng S,
Zhang A,
Zheng B,
Jian S,
Rong Z,
Su Q,
Gao X,
Rao J,
Shen Q,
Xu H;
Chinese Children Genetic Kidney Disease Database (CCGKDD);
“Internet Plus” Nephrology Alliance of the National Center for Children’s Care
J Med Genet
2022 Feb;59(2):147-154.
Epub 2020 Dec 15
doi: 10.1136/jmedgenet-2020-107184.
PMID: 33323469
Strongin A,
Heller T,
Doherty D,
Glass IA,
Parisi MA,
Bryant J,
Choyke P,
Turkbey B,
Daryanani K,
Yildirimli D,
Vemulapalli M,
Mullikin JC,
Malicdan MC,
Vilboux T,
Gahl WA,
Gunay-Aygun M;
NISC Comparative Sequencing Program
J Pediatr Gastroenterol Nutr
2018 Mar;66(3):428-435.
doi: 10.1097/MPG.0000000000001816.
PMID: 29112083Free PMC Article