Detalhe da pesquisa
1.
Noninvasive prenatal screening (NIPS) results for participants of the eXtraordinarY babies study: Screening, counseling, diagnosis, and discordance.
J Genet Couns
; 32(1): 250-259, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36204975
2.
Testicular function in boys with 47,XYY and relationship to phenotype.
Am J Med Genet C Semin Med Genet
; 184(2): 371-385, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32544298
3.
Early neurodevelopmental and medical profile in children with sex chromosome trisomies: Background for the prospective eXtraordinarY babies study to identify early risk factors and targets for intervention.
Am J Med Genet C Semin Med Genet
; 184(2): 428-443, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32506668
4.
Androgen Treatment Effects on Motor Function, Cognition, and Behavior in Boys with Klinefelter Syndrome.
J Pediatr
; 185: 193-199.e4, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28285751
5.
Growth hormone plus childhood low-dose estrogen in Turner's syndrome.
N Engl J Med
; 364(13): 1230-42, 2011 Mar 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-21449786
6.
47,XYY syndrome: clinical phenotype and timing of ascertainment.
J Pediatr
; 163(4): 1085-94, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23810129
7.
Executive Dysfunction in Klinefelter Syndrome: Associations With Brain Activation and Testicular Failure.
J Clin Endocrinol Metab
; 109(1): e88-e95, 2023 Dec 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37595261
8.
Facilitators and barriers to pediatric clinical trial recruitment and retention in rural and community settings: A scoping review of the literature.
Clin Transl Sci
; 15(4): 838-853, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35037409
9.
Insulin resistance and metabolic syndrome in prepubertal boys with Klinefelter syndrome.
Acta Paediatr
; 100(6): 866-70, 2011 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-21251059
10.
Effects of treatment with oxandrolone for 4 years on the frequency of severe arithmetic learning disability in girls with Turner syndrome.
J Pediatr
; 155(5): 714-20, 2009 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-19643440
11.
Effect of ascertainment and genetic features on the phenotype of Klinefelter syndrome.
J Pediatr
; 152(5): 716-22, 2008 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-18410780
12.
Oxandrolone Treatment Results in an Increased Risk of Gonadarche in Prepubertal Boys With Klinefelter Syndrome.
J Clin Endocrinol Metab
; 103(9): 3449-3455, 2018 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29931143
13.
A Turner syndrome neurocognitive phenotype maps to Xp22.3.
Behav Brain Funct
; 3: 24, 2007 May 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-17517138
14.
Effects of Oxandrolone on Cardiometabolic Health in Boys With Klinefelter Syndrome: A Randomized Controlled Trial.
J Clin Endocrinol Metab
; 102(1): 176-184, 2017 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27802097
15.
Consideration of Insulin Pumps or Continuous Glucose Monitors by Adolescents With Type 1 Diabetes and Their Parents: Stakeholder Engagement in the Design of Web-Based Decision Aids.
Diabetes Educ
; 42(4): 395-407, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27150606
16.
Androgen receptor CAGn repeat length influences phenotype of 47,XXY (Klinefelter) syndrome.
J Clin Endocrinol Metab
; 90(9): 5041-6, 2005 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-15956082
17.
Effects of low-dose estrogen replacement during childhood on pubertal development and gonadotropin concentrations in patients with Turner syndrome: results of a randomized, double-blind, placebo-controlled clinical trial.
J Clin Endocrinol Metab
; 99(9): E1754-64, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24762109
18.
Prospective study confirms oxandrolone-associated improvement in height in growth hormone-treated adolescent girls with Turner syndrome.
Horm Res Paediatr
; 75(1): 38-46, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-20733274
19.
Early androgen deficiency in infants and young boys with 47,XXY Klinefelter syndrome.
Horm Res
; 64(1): 39-45, 2005.
Artigo
em Inglês
| MEDLINE | ID: mdl-16088206
20.
The phenotype of short stature homeobox gene (SHOX) deficiency in childhood: contrasting children with Leri-Weill dyschondrosteosis and Turner syndrome.
J Pediatr
; 147(4): 499-507, 2005 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-16227037