Etiology
Di Meglio L,
Toscano P,
Saccone G,
Di Meglio L,
Mazzarelli LL,
Zullo F,
Raffone A,
Travaglino A,
Locci M,
Di Meglio A
Arch Gynecol Obstet
2020 Aug;302(2):377-382.
Epub 2020 Jun 12
doi: 10.1007/s00404-020-05641-z.
PMID: 32533284
Miyahara J,
Yamamoto M,
Motoshige K,
Fujita N,
Ohki S
Pediatr Int
2016 Jul;58(7):604-6.
Epub 2016 May 23
doi: 10.1111/ped.12848.
PMID: 27216547
Plazanet C,
Arrondel C,
Chavant F,
Gubler MC
Pediatr Nephrol
2014 Jul;29(7):1221-30.
Epub 2014 Jan 30
doi: 10.1007/s00467-013-2749-4.
PMID: 24477978
Zerres K
Pediatr Nephrol
1987 Jul;1(3):397-404.
doi: 10.1007/BF00849243.
PMID: 3153307
Curry CJ,
Jensen K,
Holland J,
Miller L,
Hall BD
Am J Med Genet
1984 Dec;19(4):679-702.
doi: 10.1002/ajmg.1320190408.
PMID: 6393764
Diagnosis
Gubler MC
Pediatr Nephrol
2014 Jan;29(1):51-9.
Epub 2013 May 1
doi: 10.1007/s00467-013-2480-1.
PMID: 23636579
Gribouval O,
Morinière V,
Pawtowski A,
Arrondel C,
Sallinen SL,
Saloranta C,
Clericuzio C,
Viot G,
Tantau J,
Blesson S,
Cloarec S,
Machet MC,
Chitayat D,
Thauvin C,
Laurent N,
Sampson JR,
Bernstein JA,
Clemenson A,
Prieur F,
Daniel L,
Levy-Mozziconacci A,
Lachlan K,
Alessandri JL,
Cartault F,
Rivière JP,
Picard N,
Baumann C,
Delezoide AL,
Belar Ortega M,
Chassaing N,
Labrune P,
Yu S,
Firth H,
Wellesley D,
Bitzan M,
Alfares A,
Braverman N,
Krogh L,
Tolmie J,
Gaspar H,
Doray B,
Majore S,
Bonneau D,
Triau S,
Loirat C,
David A,
Bartholdi D,
Peleg A,
Brackman D,
Stone R,
DeBerardinis R,
Corvol P,
Michaud A,
Antignac C,
Gubler MC
Hum Mutat
2012 Feb;33(2):316-26.
Epub 2011 Dec 22
doi: 10.1002/humu.21661.
PMID: 22095942
Gubler MC,
Antignac C
Kidney Int
2010 Mar;77(5):400-6.
Epub 2009 Nov 18
doi: 10.1038/ki.2009.423.
PMID: 19924102
Curry CJ,
Jensen K,
Holland J,
Miller L,
Hall BD
Am J Med Genet
1984 Dec;19(4):679-702.
doi: 10.1002/ajmg.1320190408.
PMID: 6393764
Dicker D,
Samuel N,
Feldberg D,
Goldman JA
Eur J Obstet Gynecol Reprod Biol
1984 Sep;18(1-2):17-24.
doi: 10.1016/0028-2243(84)90028-5.
PMID: 6389211
Therapy
Richer J,
Daoud H,
Geier P,
Jarinova O,
Carson N,
Feberova J,
Ben Fadel N,
Unrau J,
Bareke E,
Khatchadourian K,
Bulman DE,
Majewski J,
Boycott KM,
Dyment DA
Am J Med Genet A
2015 Jul;167(7):1654-8.
Epub 2015 Apr 21
doi: 10.1002/ajmg.a.37067.
PMID: 25899979
Plazanet C,
Arrondel C,
Chavant F,
Gubler MC
Pediatr Nephrol
2014 Jul;29(7):1221-30.
Epub 2014 Jan 30
doi: 10.1007/s00467-013-2749-4.
PMID: 24477978
Koklu E,
Gurgoze M,
Akgun H,
Ozturk MA,
Poyrazoglu MH
Ann Trop Paediatr
2006 Sep;26(3):241-5.
doi: 10.1179/146532806X120345.
PMID: 16925962
Prognosis
Vincent KM,
Alrajhi A,
Lazier J,
Bonin B,
Lawrence S,
Weiler G,
Armour CM
Mol Genet Genomic Med
2022 May;10(5):e1920.
Epub 2022 Mar 14
doi: 10.1002/mgg3.1920.
PMID: 35286024Free PMC Article
Anjum F,
Daha SK,
Shah G
JNMA J Nepal Med Assoc
2020 Mar;58(223):185-187.
doi: 10.31729/jnma.4488.
PMID: 32347827Free PMC Article
Gautam U,
Kafley R,
Chikanbanjar V,
Shakya A,
Basnet R,
Manandhar SR
JNMA J Nepal Med Assoc
2020 Mar;58(223):178-180.
doi: 10.31729/jnma.4683.
PMID: 32347825Free PMC Article
Gribouval O,
Morinière V,
Pawtowski A,
Arrondel C,
Sallinen SL,
Saloranta C,
Clericuzio C,
Viot G,
Tantau J,
Blesson S,
Cloarec S,
Machet MC,
Chitayat D,
Thauvin C,
Laurent N,
Sampson JR,
Bernstein JA,
Clemenson A,
Prieur F,
Daniel L,
Levy-Mozziconacci A,
Lachlan K,
Alessandri JL,
Cartault F,
Rivière JP,
Picard N,
Baumann C,
Delezoide AL,
Belar Ortega M,
Chassaing N,
Labrune P,
Yu S,
Firth H,
Wellesley D,
Bitzan M,
Alfares A,
Braverman N,
Krogh L,
Tolmie J,
Gaspar H,
Doray B,
Majore S,
Bonneau D,
Triau S,
Loirat C,
David A,
Bartholdi D,
Peleg A,
Brackman D,
Stone R,
DeBerardinis R,
Corvol P,
Michaud A,
Antignac C,
Gubler MC
Hum Mutat
2012 Feb;33(2):316-26.
Epub 2011 Dec 22
doi: 10.1002/humu.21661.
PMID: 22095942
Dicker D,
Samuel N,
Feldberg D,
Goldman JA
Eur J Obstet Gynecol Reprod Biol
1984 Sep;18(1-2):17-24.
doi: 10.1016/0028-2243(84)90028-5.
PMID: 6389211
Clinical prediction guides
Ostatníková Michaela,
Doležal Pavel,
Gábor Martin,
Záhumenský Jozef
Ceska Gynekol
2022;87(4):278-281.
doi: 10.48095/cccg2022278.
PMID: 36055789
Plazanet C,
Arrondel C,
Chavant F,
Gubler MC
Pediatr Nephrol
2014 Jul;29(7):1221-30.
Epub 2014 Jan 30
doi: 10.1007/s00467-013-2749-4.
PMID: 24477978
Gubler MC
Pediatr Nephrol
2014 Jan;29(1):51-9.
Epub 2013 May 1
doi: 10.1007/s00467-013-2480-1.
PMID: 23636579
Gribouval O,
Morinière V,
Pawtowski A,
Arrondel C,
Sallinen SL,
Saloranta C,
Clericuzio C,
Viot G,
Tantau J,
Blesson S,
Cloarec S,
Machet MC,
Chitayat D,
Thauvin C,
Laurent N,
Sampson JR,
Bernstein JA,
Clemenson A,
Prieur F,
Daniel L,
Levy-Mozziconacci A,
Lachlan K,
Alessandri JL,
Cartault F,
Rivière JP,
Picard N,
Baumann C,
Delezoide AL,
Belar Ortega M,
Chassaing N,
Labrune P,
Yu S,
Firth H,
Wellesley D,
Bitzan M,
Alfares A,
Braverman N,
Krogh L,
Tolmie J,
Gaspar H,
Doray B,
Majore S,
Bonneau D,
Triau S,
Loirat C,
David A,
Bartholdi D,
Peleg A,
Brackman D,
Stone R,
DeBerardinis R,
Corvol P,
Michaud A,
Antignac C,
Gubler MC
Hum Mutat
2012 Feb;33(2):316-26.
Epub 2011 Dec 22
doi: 10.1002/humu.21661.
PMID: 22095942
Lacoste M,
Cai Y,
Guicharnaud L,
Mounier F,
Dumez Y,
Bouvier R,
Dijoud F,
Gonzales M,
Chatten J,
Delezoide AL,
Daniel L,
Joubert M,
Laurent N,
Aziza J,
Sellami T,
Amar HB,
Jarnet C,
Frances AM,
Daïkha-Dahmane F,
Coulomb A,
Neuhaus TJ,
Foliguet B,
Chenal P,
Marcorelles P,
Gasc JM,
Corvol P,
Gubler MC
J Am Soc Nephrol
2006 Aug;17(8):2253-63.
Epub 2006 Jun 21
doi: 10.1681/ASN.2005121303.
PMID: 16790508