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chela james
chela james
Fondazione Human Technopole, Milan
Email verificata su fht.org
Titolo
Citata da
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Anno
The genetic basis of congenital hyperinsulinism
C James, RR Kapoor, D Ismail, K Hussain
Journal of medical genetics 46 (5), 289-299, 2009
2272009
Hyperinsulinaemic hypoglycaemia
RR Kapoor, SE Flanagan, C James, J Shield, S Ellard, K Hussain
Archives of Disease in Childhood 94 (6), 450-457, 2009
1842009
Hyperinsulinaemic hypoglycaemia: genetic mechanisms, diagnosis and management
S Senniappan, B Shanti, C James, K Hussain
Journal of inherited metabolic disease 35, 589-601, 2012
1752012
Advances in the diagnosis and management of hyperinsulinemic hypoglycemia
RR Kapoor, C James, K Hussain
Nature Clinical Practice Endocrinology & Metabolism 5 (2), 101-112, 2009
1422009
Phenotypic and genotypic characterisation of inflammatory bowel disease presenting before the age of 2 years
J Kammermeier, R Dziubak, M Pescarin, S Drury, H Godwin, K Reeve, ...
Journal of Crohn's and Colitis 11 (1), 60-69, 2017
1372017
Retinoic acid down‐regulates Tbx1 expression in vivo and in vitro
C Roberts, SM Ivins, CT James, PJ Scambler
Developmental dynamics: an official publication of the American Association …, 2005
1232005
SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway
ST Cliffe, JM Kramer, K Hussain, JH Robben, EK de Jong, AP de Brouwer, ...
Human molecular genetics 18 (12), 2257-2265, 2009
1152009
Targeted gene panel sequencing in children with very early onset inflammatory bowel disease—evaluation and prospective analysis
J Kammermeier, S Drury, CT James, R Dziubak, L Ocaka, M Elawad, ...
Journal of medical genetics 51 (11), 748-755, 2014
1122014
Role of Islet1 in the patterning of murine dentition
TA Mitsiadis, I Angeli, C James, U Lendahl, PT Sharpe
Oxford University Press for The Company of Biologists Limited 130 (18), 4451 …, 2003
1112003
Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome
AC Thomas, H Williams, N Setó-Salvia, C Bacchelli, D Jenkins, ...
The American Journal of Human Genetics 95 (5), 611-621, 2014
1052014
Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm
A Onoufriadis, A Shoemark, MM Munye, CT James, M Schmidts, M Patel, ...
Journal of medical genetics 51 (1), 61-67, 2014
1042014
Mitochondrial potentiation ameliorates age-related heterogeneity in hematopoietic stem cell function
E Mansell, V Sigurdsson, E Deltcheva, J Brown, C James, K Miharada, ...
Cell Stem Cell 28 (2), 241-256. e6, 2021
1032021
Microarray analysis detects differentially expressed genes in the pharyngeal region of mice lacking Tbx1
S Ivins, KL van Beuren, C Roberts, C James, E Lindsay, A Baldini, ...
Developmental biology 285 (2), 554-569, 2005
962005
3-Hydroxyacyl-coenzyme A dehydrogenase deficiency and hyperinsulinemic hypoglycemia: characterization of a novel mutation and severe dietary protein sensitivity
RR Kapoor, C James, SE Flanagan, S Ellard, S Eaton, K Hussain
The Journal of Clinical Endocrinology & Metabolism 94 (7), 2221-2225, 2009
922009
Hyperinsulinaemic hypoglycaemia and diabetes mellitus due to dominant ABCC8/KCNJ11 mutations
RR Kapoor, SE Flanagan, CT James, J McKiernan, AM Thomas, ...
Diabetologia 54, 2575-2583, 2011
782011
Phenotypic plasticity and genetic control in colorectal cancer evolution
J Househam, T Heide, GD Cresswell, I Spiteri, C Kimberley, L Zapata, ...
Nature 611 (7937), 744-753, 2022
762022
A human IPS model implicates embryonic B-myeloid fate restriction as developmental susceptibility to B acute lymphoblastic leukemia-associated ETV6-RUNX1
C Böiers, SE Richardson, E Laycock, A Zriwil, VA Turati, J Brown, JP Wray, ...
Developmental cell 44 (3), 362-377. e7, 2018
762018
Pancreatic β-cell KATP channels: Hypoglycaemia and hyperglycaemia
K Bennett, C James, K Hussain
Reviews in endocrine and metabolic disorders 11, 157-163, 2010
762010
Hyperinsulinism in developmental syndromes
RR Kapoor, C James, K Hussain
Endocrine Involvement in Developmental Syndromes 14, 95-113, 2009
692009
Mutations in EXTL3 cause neuro-immuno-skeletal dysplasia syndrome
MM Oud, P Tuijnenburg, M Hempel, N van Vlies, Z Ren, S Ferdinandusse, ...
The American Journal of Human Genetics 100 (2), 281-296, 2017
642017
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