J
Johnny Deladoëy
Researcher at Université de Montréal
Publications - 73
Citations - 2480
Johnny Deladoëy is an academic researcher from Université de Montréal. The author has contributed to research in topics: Congenital hypothyroidism & Thyroid. The author has an hindex of 26, co-authored 72 publications receiving 2226 citations. Previous affiliations of Johnny Deladoëy include Centre Hospitalier Universitaire Sainte-Justine & Boston Children's Hospital.
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Journal ArticleDOI
Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care.
Sara L. Sawyer,Taila Hartley,David A. Dyment,Chandree L. Beaulieu,Jeremy Schwartzentruber,Amanda C. Smith,H M Bedford,Geneviève Bernard,Francois P. Bernier,Bernard Brais,Dennis E. Bulman,J. Warman Chardon,David Chitayat,Johnny Deladoëy,Bridget A. Fernandez,Patrick Frosk,Michael T. Geraghty,Brenda Gerull,William T. Gibson,Robert M. Gow,Gail E. Graham,Jane Green,Elise Héon,Gabriella Horvath,A.M. Innes,Nada Jabado,Raymond H. Kim,Robert K. Koenekoop,Aneal Khan,Ordan J. Lehmann,Roberto Mendoza-Londono,Jacques L. Michaud,Sarah M. Nikkel,L S Penney,Constantin Polychronakos,Julie Richer,Guy A. Rouleau,Mark E. Samuels,Victoria Mok Siu,Oksana Suchowersky,Mark A. Tarnopolsky,Grace Yoon,Farah R. Zahir,Jacek Majewski,Kym M. Boycott +44 more
TL;DR: The analysis of this dataset showed that these known disease genes were not identified prior to WES enrollment for two key reasons: genetic heterogeneity associated with a clinical diagnosis and atypical presentation of known, clinically recognized diseases.
Journal ArticleDOI
Is the incidence of congenital hypothyroidism really increasing? A 20-year retrospective population-based study in Québec.
TL;DR: Estimating the incidence of CH is influenced by minimal changes in TSH screening cutoffs, and lower cutoffs identify additional cases that have predominantly functional disorders whose impact on intellectual disability, if left untreated, remains to be determined.
Journal ArticleDOI
"Hot spot" in the PROP1 gene responsible for combined pituitary hormone deficiency.
Johnny Deladoëy,Christa E. Flück,Atilla Büyükgebiz,Beatrice Kuhlmann,Andrée Eblé,Peter C. Hindmarsh,Wei Wu,Primus E. Mullis +7 more
TL;DR: The PROP1 gene seems to be a major candidate gene for CPHD; however, further studies are needed to evaluate other genetic defects involved in pituitary development.
Journal ArticleDOI
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).
Christa E. Flück,Johnny Deladoëy,Kuno Rutishauser,Andrée Eblé,Ulrich Marti,Wei Wu,Primus E. Mullis +6 more
TL;DR: The follow-up of two consanguineous families is reported on, with five subjects affected with CPHD caused by the same nucleotide C to T transition, resulting in the substitution of Arg-->Cys in PROP1 at codon 120.
Journal ArticleDOI
Aromatase deficiency caused by a novel P450arom gene mutation: impact of absent estrogen production on serum gonadotropin concentration in a boy.
Johnny Deladoëy,Christa E. Flück,Marie Bex,Noriko Yoshimura,Nobuhiro Harada,Primus E. Mullis +5 more
TL;DR: The discovery of a new point mutation in the CYP19 gene responsible for aromatase (P450arom) deficiency in a 46,XY male infant with unremarkable clinical findings at birth suggests that the contribution of estrogen to the hypothalamic-pituitary gonadotropin-gonadal feedback mechanism is different in boys and girls during infancy and early childhood.