1 |
Mutations in PAX2 associate with adult-onset FSGS.
61
24
|
Barua M...Pollak MR
|
24676634 |
2014 |
2 |
Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database.
61
24
|
Bower M...Heidet L
|
22213154 |
2012 |
3 |
PAX2 mutations in fetal renal hypodysplasia.
61
24
|
Martinovic-Bouriel J...Gubler MC
|
20358591 |
2010 |
4 |
Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations.
24
61
|
Azuma N...Yamada M
|
12721955 |
2003 |
5 |
Redefining papillorenal syndrome: an underdiagnosed cause of ocular and renal morbidity.
61
24
|
Parsa CF...Hunter DG
|
11297491 |
2001 |
6 |
Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract.
24
|
Heidet L...Jeanpierre C
|
28566479 |
2017 |
7 |
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.
24
|
Pfundt R...Hehir-Kwa JY
|
28574513 |
2017 |
8 |
Novel interstitial deletion of 10q24.3-25.1 associated with multiple congenital anomalies including lobar holoprosencephaly, cleft lip and palate, and hypoplastic kidneys.
24
|
Peltekova IT...Armour CM
|
25257335 |
2014 |
9 |
Detection of PAX2 deletions and duplications using multiplex ligation-dependent probe amplification.
24
|
Karger AB...Thyagarajan B
|
23756089 |
2013 |
10 |
A novel interstitial deletion of 10q24.2q24.32 in a patient with renal coloboma syndrome.
24
|
Hoefele J...Kunstmann E
|
22361651 |
2012 |
11 |
Novel perspectives for investigating congenital anomalies of the kidney and urinary tract (CAKUT).
24
|
Renkema KY...EUCAKUT consortium
|
22121240 |
2011 |
12 |
Array comparative genomic hybridization analysis in patients with anophthalmia, microphthalmia, and coloboma.
24
|
Raca G...Schimmenti LA
|
21285886 |
2011 |
13 |
A clinico-genetic study of renal coloboma syndrome in children.
24
|
Cheong HI...Choi Y
|
17541647 |
2007 |
14 |
Renal hypoplasia without optic coloboma associated with PAX2 gene deletion.
24
|
Benetti E...Murer L
|
17403695 |
2007 |
15 |
Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study.
24
|
Weber S...Salomon R
|
16971658 |
2006 |
16 |
Multicystic dysplastic kidney and variable phenotype in a family with a novel deletion mutation of PAX2.
24
|
Fletcher J...Alexander SI
|
16049068 |
2005 |
17 |
Best cases from the AFIP: intrarenal teratoma.
24
|
Choi DJ...Baiyee D
|
15798064 |
2005 |
18 |
Optic nerve dysplasia and renal insufficiency in a family with a novel PAX2 mutation, Arg115X: further ophthalmologic delineation of the renal-coloboma syndrome.
24
|
Schimmenti LA...Sieving PA
|
14566649 |
2003 |
19 |
Renal-coloboma syndrome: report of a novel PAX2 gene mutation.
24
|
Chung GW...Ritter R
|
11730657 |
2001 |
20 |
Renal coloboma syndrome.
24
|
Dureau P...Dufier JL
|
11581073 |
2001 |
21 |
PAX2 gene mutation in a family with isolated renal hypoplasia.
24
|
Nishimoto K...Yoshikawa N
|
11461952 |
2001 |
22 |
[A nineteen year observation of a boy with branchio-oto-renal syndrome and chronic renal failure].
24
|
Sikora P...Niedzielska G
|
11434182 |
2001 |
23 |
Renal-coloboma syndrome: prenatal detection and clinical spectrum in a large family.
24
|
Ford B...Friedman JM
|
11241473 |
2001 |
24 |
PAX2 mutations in oligomeganephronia.
24
|
Salomon R...Broyer M
|
11168927 |
2001 |
25 |
PAX2 mutations in renal-coloboma syndrome: mutational hotspot and germline mosaicism.
24
|
Amiel J...Attie-Bitach T
|
11093271 |
2000 |
26 |
PAX2 suppresses apoptosis in renal collecting duct cells.
24
|
Torban E...Goodyer PR
|
10980123 |
2000 |
27 |
Expression of the PAX2 gene in human embryos and exclusion in the CHARGE syndrome.
24
|
Tellier AL...Attie-Bitach T
|
10869107 |
2000 |
28 |
Primary renal hypoplasia in humans and mice with PAX2 mutations: evidence of increased apoptosis in fetal kidneys of Pax2(1Neu) +/- mutant mice.
24
|
Porteous S...Eccles M
|
10587573 |
2000 |
29 |
Homonucleotide expansion and contraction mutations of PAX2 and inclusion of Chiari 1 malformation as part of renal-coloboma syndrome.
24
|
Schimmenti LA...Dobyns WB
|
10533062 |
1999 |
30 |
Localisation of a 10q breakpoint within the PAX2 gene in a patient with a de novo t(10;13) translocation and optic nerve coloboma-renal disease.
24
|
Narahara K...Richards RI
|
9132492 |
1997 |
31 |
Autosomal dominant optic nerve colobomas, vesicoureteral reflux, and renal anomalies.
24
|
Schimmenti LA...Dobyns WB
|
8588587 |
1995 |
32 |
Mutation of PAX2 in two siblings with renal-coloboma syndrome.
24
|
Sanyanusin P...Eccles MR
|
8589702 |
1995 |
33 |
Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux.
24
|
Sanyanusin P...Eccles MR
|
7795640 |
1995 |
34 |
Clinical and genetic variability of PAX2-related disorder in the Japanese population.
61
|
Rossanti R...Iijima K
|
32203253 |
2020 |
35 |
A novel truncating PAX2 mutation in a boy with renal coloboma syndrome with focal segmental glomerulosclerosis causing rapid progression to end-stage kidney disease.
61
|
Saida K...Ito S
|
31538321 |
2020 |
36 |
A new mutation in the PAX2 gene in a Papillorenal Syndrome patient.
61
|
Rachwani Anil R...Contreras ME
|
31692565 |
2019 |
37 |
Diverse phenotypes in children with PAX2-related disorder.
61
|
Deng H...Ding J
|
31060108 |
2019 |
38 |
Preimplantation genetic diagnosis as a strategy to prevent having a child born with an heritable eye disease.
61
|
Yahalom C...Blumenfeld A
|
29781739 |
2018 |
39 |
Rethinking genotype-phenotype correlations in papillorenal syndrome: a case report on an unusual congenital camptodactyly and skeletal deformity with a heterogeneous PAX2 mutation of hexanucleotide duplication.
61
|
Liu J...Yu Z
|
29054766 |
2018 |
40 |
Three New PAX2 Gene Mutations in Patients with Papillorenal Syndrome.
61
|
Galvez-Ruiz A...Schatz P
|
29339962 |
2017 |
41 |
Bilateral Optic Nerve Coloboma and Macular Schisis in Papillorenal Syndrome.
61
|
Rahimy E...Rahimy E
|
27107352 |
2016 |
42 |
PERIPHERAL AVASCULAR RETINA WITH DISK ANOMALY AND HIGH MYOPIA: A Novel Association in a Hereditary Isolated Ocular Disorder.
61
|
Habib AM...Abd El-Salam MM
|
26225485 |
2016 |
43 |
Retinoschisis and outer retinal hole formation in a patient with papillorenal syndrome.
61
|
Droms RJ...Duker JS
|
25932727 |
2015 |
44 |
Optic disc dysplasia in poland syndrome.
61
|
Maxfield SD...Strominger MB
|
23647425 |
2014 |
45 |
Papillorenal syndrome in a family with unusual complications.
61
|
Megaw RD...Wright AF
|
23686327 |
2013 |
46 |
Papillorenal syndrome with de novo reciprocal translocation t(2;15) (q31; q26).
61
|
Aydin B...Okumus N
|
24032291 |
2013 |
47 |
PAX2 gene mutations in pediatric and young adult transplant recipients: kidney and urinary tract malformations without ocular anomalies.
61
|
Negrisolo S...Artifoni L
|
21108633 |
2011 |
48 |
Renal coloboma syndrome.
61
|
Schimmenti LA
|
21654726 |
2011 |
49 |
Clinical utility gene card for: renal coloboma (Papillorenal) syndrome.
61
|
Bower M...Schimmenti LA
|
21326282 |
2011 |
50 |
A surviving case of papillorenal syndrome with the phenotype of Potter sequence.
61
|
Fujioka K...Matsuo M
|
21696512 |
2011 |
51 |
The Opdc missense mutation of Pax2 has a milder than loss-of-function phenotype.
61
|
Cross SH...Jackson IJ
|
20943750 |
2011 |
52 |
Bilateral Optic Disc Anomalies Associated with PAX2 Mutation in a Case of Potter Sequence.
61
|
Tagami M...Negi A
|
21151632 |
2010 |
53 |
Papillorenal syndrome-causing missense mutations in PAX2/Pax2 result in hypomorphic alleles in mouse and human.
61
|
Alur RP...Brooks BP
|
20221250 |
2010 |
54 |
Papillorenal syndrome after Beta-interferon treatment in pregnancy.
61
|
Gucev ZS...Tasic V
|
19839859 |
2009 |
55 |
Diagnosing papillorenal syndrome: see the optic papilla.
61
|
Parsa CF...Parsa A
|
18512081 |
2008 |
56 |
Cavitary anomalies of the optic disc: neurologic significance.
61
|
Golnik KC
|
18713577 |
2008 |
57 |
Bilateral macular detachment caused by bilateral optic nerve malformation in a papillorenal syndrome due to a new PAX2 mutation.
61
|
Samimi S...Korobelnik JF
|
18609495 |
2008 |
58 |
Optic nerve axon number in mouse is regulated by PAX2.
61
|
Alur RP...Brooks BP
|
18083586 |
2008 |
59 |
PAX2-Related Disorder
61
|
Bower MA...Eccles MR
|
20301624 |
2007 |
60 |
Abnormal optic discs and renal failure: papillorenal syndrome.
61
|
Nguyen D...Riordan-Eva P
|
17083547 |
2006 |
61 |
Early diagnosis of the papillorenal syndrome by optic disc morphology.
61
|
Khan AO...Nowilaty SR
|
16148630 |
2005 |
62 |
De novo insG619 mutation in PAX2 gene in a Japanese patient with papillorenal syndrome.
61
|
Yoshimura K...Ishibashi T
|
15808183 |
2005 |
63 |
Papillorenal syndrome in a Brazilian family.
61
|
Parsa CF...Hunter DG
|
12470164 |
2002 |
64 |
[Renal-coloboma syndrome].
61
|
Asensio Sanchez VM...De Paz Garcia M
|
12410411 |
2002 |
65 |
Multifocal visual evoked potentials and multifocal electroretinograms in papillorenal syndrome.
61
|
Chen CS...Hood DC
|
12049607 |
2002 |