Utility of whole‐exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care SL Sawyer, T Hartley, DA Dyment, CL Beaulieu, J Schwartzentruber, ... Clinical genetics 89 (3), 275-284, 2016 | 418 | 2016 |
“Hot spot” in the PROP1 gene responsible for combined pituitary hormone deficiency J Deladoëy, C Flück, A Büyükgebiz, BV Kuhlmann, A Eblé, ... The Journal of Clinical Endocrinology & Metabolism 84 (5), 1645-1650, 1999 | 259 | 1999 |
Is the incidence of congenital hypothyroidism really increasing? A 20-year retrospective population-based study in Québec J Deladoëy, J Ruel, Y Giguère, G Van Vliet The Journal of Clinical Endocrinology & Metabolism 96 (8), 2422-2429, 2011 | 248 | 2011 |
Phenotypic variability in familial combined pituitary hormone deficiency caused by a PROP1 gene mutation resulting in the substitution of Arg→ Cys at codon 120 (R120C) C Flück, J Deladoey, K Rutishauser, A Eblé, U Marti, W Wu, PE Mullis The Journal of Clinical Endocrinology & Metabolism 83 (10), 3727-3734, 1998 | 248 | 1998 |
Association of adrenal insufficiency with insulin-dependent diabetes mellitus in a patient with inactivating mutations in nicotinamide nucleotide transhydrogenase: a phenocopy … R Scott, G Van Vliet, J Deladoëy European Journal of Endocrinology 176 (3), C1-C2, 2017 | 206 | 2017 |
Aromatase Deficiency Caused by a Novel P450arom Gene Mutation: Impact of Absent Estrogen Production on Serum Gonadotropin Concentration in a Boy J Deladoëy, C Flück, M Bex, N Yoshimura, N Harada, PE Mullis The Journal of Clinical Endocrinology & Metabolism 84 (11), 4050-4054, 1999 | 151 | 1999 |
Short stature caused by a biologically inactive mutant growth hormone (GH-C53S) A Besson, S Salemi, J Deladoëy, JM Vuissoz, A Eblé, M Bidlingmaier, ... The Journal of Clinical Endocrinology & Metabolism 90 (5), 2493-2499, 2005 | 103 | 2005 |
Isolated autosomal dominant growth hormone deficiency: an evolving pituitary deficit? A multicenter follow-up study PE Mullis, ICAF Robinson, S Salemi, A Eblé, A Besson, JM Vuissoz, ... The Journal of Clinical Endocrinology & Metabolism 90 (4), 2089-2096, 2005 | 96 | 2005 |
Influence of adiposity, physical activity, fitness, and screen time on insulin dynamics over 2 years in children M Henderson, A Benedetti, TA Barnett, ME Mathieu, J Deladoëy, ... JAMA pediatrics 170 (3), 227-235, 2016 | 94 | 2016 |
Random variability in congenital hypothyroidism from thyroid dysgenesis over 16 years in Quebec J Deladoëy, N Bélanger, G Van Vliet The Journal of Clinical Endocrinology & Metabolism 92 (8), 3158-3161, 2007 | 85 | 2007 |
Lethal Respiratory Failure and Mild Primary Hypothyroidism in a Term Girl with a de Novo Heterozygous Mutation in the TITF1/NKX2.1 Gene E Maquet, S Costagliola, J Parma, C Christophe-Hobertus, LL Oligny, ... The Journal of Clinical Endocrinology & Metabolism 94 (1), 197-203, 2009 | 84 | 2009 |
Variation by ethnicity in the prevalence of congenital hypothyroidism due to thyroid dysgenesis S Stoppa-Vaucher, G Van Vliet, J Deladoëy Thyroid 21 (1), 13-18, 2011 | 79 | 2011 |
Autosomal Dominant GH Deficiency Due to an Arg183His GH-1 Gene Mutation: Clinical and Molecular Evidence of Impaired Regulated GH Secretion J Deladoëy, P Stocker, PE Mullis The Journal of Clinical Endocrinology & Metabolism 86 (8), 3941-3947, 2001 | 74 | 2001 |
Possible non-Mendelian mechanisms of thyroid dysgenesis J Deladoëy, G Vassart, G Van Vliet Thyroid Gland Development and Function 10, 29-42, 2007 | 69 | 2007 |
Bioinactive ACTH causing glucocorticoid deficiency ME Samuels, N Gallo-Payet, S Pinard, C Hasselmann, F Magne, L Patry, ... The Journal of Clinical Endocrinology & Metabolism 98 (2), 736-742, 2013 | 62 | 2013 |
Transcriptome, methylome and genomic variations analysis of ectopic thyroid glands R Abu-Khudir, J Paquette, A Lefort, F Libert, JP Chanoine, G Vassart, ... PloS one 5 (10), e13420, 2010 | 54 | 2010 |
Molecular and cellular basis of isolated dominant-negative growth hormone deficiency, IGHD type II: insights on the secretory pathway of peptide hormones PE Mullis, J Deladoëy, PS Dannies Hormone research 58 (2), 53-66, 2002 | 50 | 2002 |
New autosomal recessive mutation of the TSH-β subunit gene causing central isolated hypothyroidism JM Vuissoz, J Deladoëy, A Buyukgebiz, P Cemeroglu, G Gex, S Gallati, ... The Journal of Clinical Endocrinology & Metabolism 86 (9), 4468-4471, 2001 | 49 | 2001 |
Functional zebrafish studies based on human genotyping point to netrin-1 as a link between aberrant cardiovascular development and thyroid dysgenesis R Opitz, MP Hitz, I Vandernoot, A Trubiroha, R Abu-Khudir, M Samuels, ... Endocrinology 156 (1), 377-388, 2015 | 44 | 2015 |
Thyroid function from birth to adolescence in Prader-Willi syndrome M Sharkia, S Michaud, MT Berthier, Y Giguère, L Stewart, J Deladoëy, ... The Journal of pediatrics 163 (3), 800-805, 2013 | 44 | 2013 |