Search details
1.
OXGR1 is a candidate disease gene for human calcium oxalate nephrolithiasis.
Genet Med
; 25(3): 100351, 2023 03.
Article
in English
| MEDLINE | ID: mdl-36571463
2.
Making white spots disappear! Do minimally invasive treatments improve incisor opacities in children with molar-incisor hypomineralisation?
Int J Paediatr Dent
; 32(4): 617-625, 2022 Jul.
Article
in English
| MEDLINE | ID: mdl-34797015
3.
Mutations in SLC26A1 Cause Nephrolithiasis.
Am J Hum Genet
; 98(6): 1228-1234, 2016 06 02.
Article
in English
| MEDLINE | ID: mdl-27210743
4.
Panel sequencing distinguishes monogenic forms of nephritis from nephrosis in children.
Nephrol Dial Transplant
; 34(3): 474-485, 2019 03 01.
Article
in English
| MEDLINE | ID: mdl-30295827
5.
Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis.
Kidney Int
; 93(1): 204-213, 2018 01.
Article
in English
| MEDLINE | ID: mdl-28893421
6.
Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies.
J Med Genet
; 53(3): 208-14, 2016 Mar.
Article
in English
| MEDLINE | ID: mdl-26673778
7.
Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity.
Kidney Int
; 89(2): 468-475, 2016 Feb.
Article
in English
| MEDLINE | ID: mdl-26489029
8.
IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype.
J Med Genet
; 52(10): 657-65, 2015 Oct.
Article
in English
| MEDLINE | ID: mdl-26275418
9.
Evolutionarily conserved morphogenetic movements at the vertebrate head-trunk interface coordinate the transport and assembly of hypopharyngeal structures.
Dev Biol
; 390(2): 231-46, 2014 Jun 15.
Article
in English
| MEDLINE | ID: mdl-24662046
10.
Satellite cells, connective tissue fibroblasts and their interactions are crucial for muscle regeneration.
Development
; 138(17): 3625-37, 2011 Sep.
Article
in English
| MEDLINE | ID: mdl-21828091
11.
Connective tissue fibroblasts and Tcf4 regulate myogenesis.
Development
; 138(2): 371-84, 2011 Jan.
Article
in English
| MEDLINE | ID: mdl-21177349
12.
Clinical variants in Caenorhabditis elegans expressing human STXBP1 reveal a novel class of pathogenic variants and classify variants of uncertain significance.
Genet Med Open
; 1(1)2023.
Article
in English
| MEDLINE | ID: mdl-38827422
13.
Determinants of children's oral health-related quality of life following aesthetic treatment of enamel opacities.
J Dent
; 98: 103372, 2020 07.
Article
in English
| MEDLINE | ID: mdl-32437856
14.
Whole Exome Sequencing Reveals a Monogenic Cause of Disease in ≈43% of 35 Families With Midaortic Syndrome.
Hypertension
; 71(4): 691-699, 2018 04.
Article
in English
| MEDLINE | ID: mdl-29483232
15.
Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome.
J Clin Invest
; 128(10): 4313-4328, 2018 10 01.
Article
in English
| MEDLINE | ID: mdl-30179222
16.
Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment.
Nat Commun
; 9(1): 1960, 2018 05 17.
Article
in English
| MEDLINE | ID: mdl-29773874
17.
Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome.
Clin J Am Soc Nephrol
; 13(1): 53-62, 2018 01 06.
Article
in English
| MEDLINE | ID: mdl-29127259
18.
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.
Nat Genet
; 49(10): 1529-1538, 2017 Oct.
Article
in English
| MEDLINE | ID: mdl-28805828
19.
Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome.
Nat Genet
; 48(4): 457-65, 2016 Apr.
Article
in English
| MEDLINE | ID: mdl-26878725
20.
Muscle stem cells contribute to myofibres in sedentary adult mice.
Nat Commun
; 6: 7087, 2015 May 14.
Article
in English
| MEDLINE | ID: mdl-25971691