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1.
Limited additional value of karyotyping cultured amniotic fluid cell colonies in addition to microarray on uncultured cells for confirmation of abnormal non-invasive prenatal testing results.
Prenat Diagn
; 44(4): 401-408, 2024 Apr.
Article
in English
| MEDLINE | ID: mdl-38141050
2.
Oxytocin in young children with Prader-Willi syndrome: Results of a randomized, double-blind, placebo-controlled, crossover trial investigating 3 months of oxytocin.
Clin Endocrinol (Oxf)
; 94(5): 774-785, 2021 05.
Article
in English
| MEDLINE | ID: mdl-33296519
3.
Three years of growth hormone treatment in young adults with Prader-Willi Syndrome previously treated with growth hormone in childhood: Effects on glucose homeostasis and metabolic syndrome.
Clin Endocrinol (Oxf)
; 93(4): 439-448, 2020 10.
Article
in English
| MEDLINE | ID: mdl-32609902
4.
Prevalence of growth hormone (GH) deficiency in previously GH-treated young adults with Prader-Willi syndrome.
Clin Endocrinol (Oxf)
; 91(1): 118-123, 2019 07.
Article
in English
| MEDLINE | ID: mdl-30973645
5.
Bone mineral density in young adults with Prader-Willi syndrome: A randomized, placebo-controlled, crossover GH trial.
Clin Endocrinol (Oxf)
; 88(6): 806-812, 2018 06.
Article
in English
| MEDLINE | ID: mdl-29418016
6.
Reply to Commentary on 'Prevalence of growth hormone (GH) deficiency in previously GH treated young adults with Prader-Willi syndrome'.
Clin Endocrinol (Oxf)
; 91(4): 579-580, 2019 10.
Article
in English
| MEDLINE | ID: mdl-31335978
7.
Free Insulin-like Growth Factor (IGF)-I in Children with PWS.
J Clin Med
; 11(5)2022 Feb 26.
Article
in English
| MEDLINE | ID: mdl-35268371
8.
Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies.
Eur J Hum Genet
; 30(3): 298-306, 2022 03.
Article
in English
| MEDLINE | ID: mdl-35017693
9.
Effects of 8 years of growth hormone treatment on scoliosis in children with Prader-Willi syndrome.
Eur J Endocrinol
; 185(1): 47-55, 2021 May 21.
Article
in English
| MEDLINE | ID: mdl-33886496
10.
Bone mineral density during 3 years of growth hormone in previously GH-treated young adults with PWS.
Eur J Endocrinol
; 184(6): 773-782, 2021 May 04.
Article
in English
| MEDLINE | ID: mdl-33769952
11.
Three years of growth hormone treatment in young adults with Prader-Willi syndrome: sustained positive effects on body composition.
Orphanet J Rare Dis
; 15(1): 163, 2020 06 24.
Article
in English
| MEDLINE | ID: mdl-32580778
12.
Evidence for Accelerated Biological Aging in Young Adults with Prader-Willi Syndrome.
J Clin Endocrinol Metab
; 105(6)2020 06 01.
Article
in English
| MEDLINE | ID: mdl-31689713
13.
Sleep-Related Breathing Disorders in Young Adults With Prader-Willi Syndrome: A Placebo-Controlled, Crossover GH Trial.
J Clin Endocrinol Metab
; 104(9): 3931-3938, 2019 Sep 01.
Article
in English
| MEDLINE | ID: mdl-30998237
14.
Novel Clinical Criteria Allow Detection of Short Stature Homeobox-Containing Gene Haploinsufficiency Caused by Either Gene or Enhancer Region Defects.
Horm Res Paediatr
; 92(6): 372-381, 2019.
Article
in English
| MEDLINE | ID: mdl-32344414
15.
Improved Mental and Motor Development During 3 Years of GH Treatment in Very Young Children With Prader-Willi Syndrome.
J Clin Endocrinol Metab
; 103(10): 3714-3719, 2018 10 01.
Article
in English
| MEDLINE | ID: mdl-30113638
16.
A Transcriptomic Signature of the Hypothalamic Response to Fasting and BDNF Deficiency in Prader-Willi Syndrome.
Cell Rep
; 22(13): 3401-3408, 2018 03 27.
Article
in English
| MEDLINE | ID: mdl-29590610
17.
Beneficial Effects of GH in Young Adults With Prader-Willi Syndrome: A 2-Year Crossover Trial.
J Clin Endocrinol Metab
; 101(11): 4110-4116, 2016 11.
Article
in English
| MEDLINE | ID: mdl-27552545
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