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John Darlow
John Darlow
Department of Clinical Genetics, Our Lady's Children's Hospital, Crumlin, Dublin, Ireland
Email verificata su ucd.ie
Titolo
Citata da
Citata da
Anno
The copy number variation landscape of congenital anomalies of the kidney and urinary tract
M Verbitsky, R Westland, A Perez, K Kiryluk, Q Liu, P Krithivasan, ...
Nature genetics 51 (1), 117-127, 2019
1932019
Genetic drivers of kidney defects in the DiGeorge syndrome
E Lopez-Rivera, YP Liu, M Verbitsky, BR Anderson, VP Capone, EA Otto, ...
New England Journal of Medicine 376 (8), 742-754, 2017
1452017
Secondary structures in d (CGG) and d (CCG) repeat tracts
JM Darlow, DRF Leach
Journal of molecular biology 275 (1), 3-16, 1998
1391998
The effects of trinucleotide repeats found in human inherited disorders on palindrome inviability in Escherichia coli suggest hairpin folding preferences in vivo.
JM Darlow, DR Leach
Genetics 141 (3), 825-832, 1995
701995
Evidence for two preferred hairpin folding patterns in d (CGG)· d (CCG) repeat tracts in vivo
JM Darlow, DRF Leach
Journal of molecular biology 275 (1), 17-23, 1998
561998
A genome-wide scan for genes involved in primary vesicoureteric reflux
H Kelly, CM Molony, JM Darlow, ME Pirker, A Yoneda, AJ Green, P Puri, ...
Journal of medical genetics 44 (11), 710-717, 2007
492007
Genetics of vesicoureteral reflux
P Puri, JH Gosemann, J Darlow, DE Barton
Nature Reviews Urology 8 (10), 539-552, 2011
432011
Urinary tract effects of HPSE2 mutations
HM Stuart, NA Roberts, EN Hilton, EA McKenzie, SB Daly, KD Hadfield, ...
Journal of the American Society of Nephrology 26 (4), 797-804, 2015
362015
VH replacement in rearranged immunoglobulin genes
JM Darlow, DI Stott
Immunology 114 (2), 155-165, 2005
362005
A statistical and genetical study of diabetes: III. Empiric risks to relatives
JM Darlow, C Smith, LJP Duncan
Annals of Human Genetics 37 (2), 157-174, 1973
331973
A new genome scan for primary nonsyndromic vesicoureteric reflux emphasizes high genetic heterogeneity and shows linkage and association with various genes already implicated …
JM Darlow, MG Dobson, R Darlay, CM Molony, M Hunziker, AJ Green, ...
Molecular genetics & genomic medicine 2 (1), 7-29, 2014
292014
Gene conversion in human rearranged immunoglobulin genes
JM Darlow, DI Stott
Immunogenetics 58 (7), 511-522, 2006
282006
Genome-wide linkage and association study implicates the 10q26 region as a major genetic contributor to primary nonsyndromic vesicoureteric reflux
JM Darlow, R Darlay, MG Dobson, A Stewart, P Charoen, J Southgate, ...
Scientific reports 7 (1), 14595, 2017
232017
Copy number variant analysis and genome-wide association study identify loci with large effect for vesicoureteral reflux
M Verbitsky, P Krithivasan, E Batourina, A Khan, SE Graham, M Marasà, ...
Journal of the American Society of Nephrology 32 (4), 805-820, 2021
172021
Heterozygous non-synonymous ROBO2 variants are unlikely to be sufficient to cause familial vesicoureteric reflux
MG Dobson, JM Darlow, M Hunziker, AJ Green, DE Barton, P Puri
Kidney international 84 (2), 327-337, 2013
142013
The increased incidence of the RET p. Gly691Ser variant in French‐Canadian vesicoureteric reflux patients is not replicated by a larger study in Ireland
JM Darlow, NHN Molloy, AJ Green, P Puri, DE Barton
Human mutation 30 (5), E612-E617, 2009
102009
Non‐functional immunoglobulin G transcripts in a case of hyper‐immunoglobulin M syndrome similar to type 4
JM Darlow, AM Farrell, DI Stott
Immunology 111 (2), 212-222, 2004
72004
On the origins of renal cell carcinoma, vesicoureteric reflux and C (Opitz trigonocephaly) syndrome: A complex puzzle revealed by the sequencing of an inherited t (2; 3 …
JM Darlow, L McKay, MG Dobson, DE Barton, I Winship
Eur. J. Hum. Genet 21, 145, 2013
62013
Author Correction: The copy number variation landscape of congenital anomalies of the kidney and urinary tract
M Verbitsky, R Westland, A Perez, K Kiryluk, Q Liu, P Krithivasan, ...
Nature genetics 51 (4), 764-764, 2019
52019
Mutation screening of ACKR3 and COPS8 in kidney cancer cases from the CONFIRM study
M Mahmoodi, T Nguyen-Dumont, F Hammet, BJ Pope, DJ Park, ...
Familial Cancer 16, 411-416, 2017
52017
Il sistema al momento non può eseguire l'operazione. Riprova più tardi.
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