Genomes and Genes
- Associations between pituitary imaging abnormalities and clinical and biochemical phenotypes in children with congenital growth hormone deficiency: data from an international observational studyCheri Deal
University of Montreal, Hopital Sainte Justine, Montreal, Que, Canada
Horm Res Paediatr 79:283-92. 2013..This study examined relationships between MRI findings and clinical/hormonal phenotypes in children with GHD in the observational Genetics and Neuroendocrinology of Short Stature International Study, GeNeSIS...
- GrowthHormone Research Society workshop summary: consensus guidelines for recombinant human growth hormone therapy in Prader-Willi syndromeCheri L Deal
Research Center and Department of Pediatrics, Centre hospitalier universitaire Sainte Justine, Montreal, Quebec, Canada H3T 1C5
J Clin Endocrinol Metab 98:E1072-87. 2013....
- Primary adrenal insufficiency in children: twenty years experience at the Sainte-Justine Hospital, MontrealRebecca Perry
Endocrinology Service, Sainte Justine Hospital, 3175 Sainte Catherine Road, Montreal, Quebec, Canada H3T 1C5
J Clin Endocrinol Metab 90:3243-50. 2005..Finally, we review the rare etiologies of PAI and propose an algorithm to aid in targeted genetic testing...
- Combining multicriteria decision analysis, ethics and health technology assessment: applying the EVIDEM decisionmaking framework to growth hormone for Turner syndrome patientsMireille M Goetghebeur
BioMedCom Consultants Inc, Dorval, Quebec, Canada
Cost Eff Resour Alloc 8:4. 2010..Further testing and validation is needed to build up MCDA approaches combined with pragmatic HTA in healthcare decisionmaking...
- Congenital isolated adrenocorticotropin deficiency: an underestimated cause of neonatal death, explained by TPIT gene mutationsSophie Vallette-Kasic
Laboratoire de Genetique Moleculaire, Institut de Recherches Cliniques de Montreal, 110 avenue des Pins Ouest, Montreal, Quebec, Canada
J Clin Endocrinol Metab 90:1323-31. 2005..Identification of TPIT gene mutations as the principal molecular cause of neonatal IAD permits prenatal diagnosis for families at risk for the purpose of early glucocorticoid replacement therapy...
- Impact of patient characteristics and clinical factors on the decision to initiate growth hormone treatment in Turner syndromeKarine Khatchadourian
Endocrinology Service and Research Center of the Centre Hospitalier Universitaire Sainte Justine, Department of Pediatrics, University of Montreal, Montreal, Quebec, Canada
Horm Res 70:300-8. 2008..To evaluate factors contributing to the decision to initiate treatment with growth hormone (GH) in patients with Turner syndrome (TS)...
- Role for tissue-dependent methylation differences in the expression of FOXE1 in nontumoral thyroid glandsRasha Abu-Khudir
Endocrinology Service and Research Center R A K, F M, C D, G V V, J D, Centre hospitalier universitaire Sainte Justine, Department of Pediatrics, University of Montreal, Montreal, Canada H3T 1C5 Department of Biochemistry R A K, J D, University of Montreal, Montreal, Canada H3C 3J7 and Endocrinology and Diabetes Unit J P C, Department of Pediatrics, British Columbia Children s Hospital, University of British Columbia, Vancouver, Canada V6H 3V4
J Clin Endocrinol Metab 99:E1120-9. 2014..This prompted us to evaluate whether differentially methylated regions (DMRs) can be found between human thyroids (either eutopic or ectopic) and matched leukocytes...
- Severe cortisol deficiency associated with reversible growth hormone deficiency in two infants: what is the link?Rebecca McEachern
Endocrinology Service and Research Center, Department of Pediatrics, Centre Hospitalier Universitaire Sainte Justine and University of Montréal, Montreal, Quebec, Canada
J Clin Endocrinol Metab 96:2670-4. 2011..Hypoglycemia is potentially life-threatening, especially in infants, and can be due to congenital cortisol and/or GH deficiency (GHD)...
- Is ultrasonography useful in predicting thyroid cancer in children with thyroid nodules and apparently benign cytopathologic features?Jannette Saavedra
Endocrinology Service and Research Center, Department of Pediatrics, Centre hospitalier universitaire Sainte Justine, Montreal, Que, Canada
Horm Res Paediatr 75:269-75. 2011..To assess whether the presence of certain findings on thyroid ultrasonography (US) correctly diagnoses malignancy even when a fine-needle aspiration biopsy (FNAB) suggests a benign lesion...
- Muscle-bone characteristics in children with Prader-Willi syndromeThomas Edouard
Endocrinology Service, Department of Pediatrics, Sainte Justine University Hospital, and Université de Montréal, Montreal, Quebec, Canada
J Clin Endocrinol Metab 97:E275-81. 2012..However, these data are limited by the fact that PWS children (who have short stature) were compared to age-matched healthy or obese individuals of normal height...
- Comparison of adolescents with Klinefelter syndrome according to the circumstances of diagnosis: amniocentesis versus clinical signsCéline M Girardin
CHU Sainte Justine, Endocrinology Service, Montreal, Que, Canada
Horm Res 72:98-105. 2009..We compared the phenotype of adolescents with Klinefelter syndrome diagnosed by amniocentesis or postnatally to the general population with a view to evidence-based genetic counselling...
- Maternal and fetal leptin, adiponectin levels and associations with fetal insulin sensitivityZhong Cheng Luo
Department of Obstetrics and Gynecology, CHU Sainte Justine, University of Montreal, Montreal, Quebec, Canada
Obesity (Silver Spring) 21:210-6. 2013..It remains uncertain whether leptin and adiponectin levels are correlated in maternal vs. fetal circulations. Little is known about whether leptin and adiponectin affect insulin sensitivity during fetal life...
- Are guidelines for glucocorticoid coverage in adrenal insufficiency currently followed?Coralie Leblicq
Endocrinology Service and Research Center, CHU Sainte Justine and Department of Pediatrics, University of Montreal, Montreal, Quebec, Canada
J Pediatr 158:492-498.e1. 2011..To search for evidence of acute adrenal failure linked to inappropriate use of stress management protocols...
- Identification of upstream stimulatory factor binding sites in the human IGFBP3 promoter and potential implication of adjacent single-nucleotide polymorphisms and responsiveness to insulinJean Paquette
Endocrine Service, Department of Pediatrics, Ste Justine Hospital, 3175 Cote Ste Catherine, Montreal, Quebec, Canada
Endocrinology 148:6007-18. 2007..In summary, we report a methylation-dependent USF binding site influencing the basal and insulin-stimulated transcriptional activity of the IGFBP3 promoter...
- Is congenital growth hormone deficiency ever transient?Cheri Deal
University of Montreal, Endocrine Service, Hopital Ste Justine, Canada
Pediatr Endocrinol Rev 2:355-62. 2005..This paper will discuss the evidence supporting these interactions and how they apply clinically to diagnosing the cause of hypoglycemia in a newborn infant...
- Human and mouse TPIT gene mutations cause early onset pituitary ACTH deficiencyAnne Marie Pulichino
Laboratoire de Genetique Moleculaire, Institut de recherches cliniques de Montreal IRCM, Montreal, Quebec, H2W 1R7 Canada
Genes Dev 17:711-6. 2003..This work defines congenital early onset IAD as a relatively homogeneous clinical entity caused by recessive transmission of loss-of-function mutations in the TPIT gene...
- Pituitary choriocarcinoma in an adolescent male: tumor-derived CG and GH delay diagnosisS Wildi-Runge
Endocrine Service, CHU Sainte Justine and the University of Montreal, Montreal, Quebec, Canada
Growth Horm IGF Res 21:181-4. 2011..The most common location is in the pineal gland; suprasellar germ cell tumors are rare. We present an additional case of a suprasellar choriocarcinoma producing GH, and review the literature...
- Retrospective study of the potential benefits and adverse events during growth hormone treatment in children with Prader-Willi syndromeMarc Fillion
Endocrinology Service and Research Center, Sainte Justine Hospital, Montreal, Quebec, Canada and Department of Pediatrics, University of Montreal, Montreal, Quebec, Canada
J Pediatr 154:230-3. 2009..To assess the effectiveness of growth hormone (GH) treatment of children with Prader-Willi syndrome (PWS) in clinical practice...