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1.
High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency.
Am J Hum Genet
; 108(8): 1526-1539, 2021 08 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-34270938
2.
Congenital hypopituitarism in two brothers with a duplication of the 'acrogigantism gene' GPR101: clinical findings and review of the literature.
Pituitary
; 24(2): 229-241, 2021 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-33184694
3.
[Symptoms, Comorbidities and Therapy of Children and Adolescents with Gender Dysphoria]. / Symptome, Komorbiditäten und Therapie von Kindern und Jugendlichen mit Geschlechtsdysphorie.
Klin Padiatr
; 232(1): 5-12, 2020 Jan.
Artículo
en Alemán
| MEDLINE | ID: mdl-31847010
4.
Calcitonin measurement in pediatrics: reference ranges are gender-dependent, validation in medullary thyroid cancer and thyroid diseases.
Clin Chem Lab Med
; 57(8): 1242-1250, 2019 07 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-30794525
5.
A novel homozygous HESX1 mutation causes panhypopituitarism without midline defects and optic nerve anomalies.
J Pediatr Endocrinol Metab
; 24(9-10): 779-82, 2011.
Artículo
en Inglés
| MEDLINE | ID: mdl-22145475
6.
Calcitonin and complementary biomarkers in the diagnosis of hereditary medullary thyroid carcinoma in children and adolescents.
J Pediatr Endocrinol Metab
; 34(12): 1491-1504, 2021 Dec 20.
Artículo
en Inglés
| MEDLINE | ID: mdl-34543539
7.
COVID-19 pandemic and families' utilization of well-child clinics and pediatric practices attendance in Germany.
BMC Res Notes
; 14(1): 140, 2021 Apr 16.
Artículo
en Inglés
| MEDLINE | ID: mdl-33863371
8.
Unique near-complete deletion of GLI2 in a patient with combined pituitary hormone deficiency and post-axial polydactyly.
Growth Horm IGF Res
; 50: 35-41, 2020 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-31862539
9.
Long-term mortality after childhood growth hormone treatment: the SAGhE cohort study.
Lancet Diabetes Endocrinol
; 8(8): 683-692, 2020 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-32707116
10.
Activating TSH-receptor mutation (Met453Thr) as a cause of adenomatous non-autoimmune hyperthyroidism in a 3-year-old boy.
J Pediatr Endocrinol Metab
; 22(3): 269-74, 2009 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-19492584
11.
LHX3 and LHX4 transcription factors in pituitary development and disease.
Pediatr Endocrinol Rev
; 6 Suppl 2: 283-90, 2009 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-19337183
12.
Height gain with combined growth hormone and gonadotropin-releasing hormone analog therapy in two pubertal siblings with a growth hormone-releasing hormone receptor mutation.
J Clin Endocrinol Metab
; 93(1): 204-7, 2008 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-17925337
13.
Three novel missense mutations within the LHX4 gene are associated with variable pituitary hormone deficiencies.
J Clin Endocrinol Metab
; 93(3): 1062-71, 2008 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-18073311
14.
Four novel mutations of the LHX3 gene cause combined pituitary hormone deficiencies with or without limited neck rotation.
J Clin Endocrinol Metab
; 92(5): 1909-19, 2007 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-17327381
15.
Mutations in the LHX3 gene cause dysregulation of pituitary and neural target genes that reflect patient phenotypes.
Gene
; 400(1-2): 44-51, 2007 Oct 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-17616267
16.
The growth response to growth hormone (GH) treatment in children with isolated GH deficiency is independent of the presence of the exon 3-minus isoform of the GH receptor.
J Clin Endocrinol Metab
; 91(10): 4171-4, 2006 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-16868057
17.
Long-Term Outcomes, Genetics, and Pituitary Morphology in Patients with Isolated Growth Hormone Deficiency and Multiple Pituitary Hormone Deficiencies: A Single-Centre Experience of Four Decades of Growth Hormone Replacement.
Horm Res Paediatr
; 86(2): 106-116, 2016.
Artículo
en Inglés
| MEDLINE | ID: mdl-27487097
18.
Auxological and endocrine phenotype in a population-based cohort of patients with PROP1 gene defects.
Eur J Endocrinol
; 153(3): 389-96, 2005 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-16131601
19.
Hypo- and hyperthyroidism in early life - new developments.
J Pediatr Endocrinol Metab
; 32(11): 1199-1201, 2019 Nov 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-31702997
20.
Serum concentrations of anti-thyroid peroxidase and anti-thyroglobulin antibodies in children and adolescents without apparent thyroid disorders.
Clin Biochem
; 47(1-2): 3-7, 2014 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-24103918