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Johnny Deladoey
Johnny Deladoey
Verified email at umontreal.ca
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Year
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
4182016
“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
2591999
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
2482011
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
2481998
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
2062017
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
1511999
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
1032005
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
962005
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
942016
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
852007
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
842009
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
792011
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
742001
Possible non-Mendelian mechanisms of thyroid dysgenesis
J Deladoëy, G Vassart, G Van Vliet
Thyroid Gland Development and Function 10, 29-42, 2007
692007
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
622013
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
542010
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
502002
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
492001
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
442015
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
442013
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