Found: 19
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The E180splice mutation in the GHR gene causing Laron syndrome: Witness of a Sephardic Jewish exodus from the Iberian Peninsula to the New World?
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1204, doi. 10.1002/ajmg.a.36444
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- Publication type:
- Article
Growth standards of patients with Noonan and Noonan-like syndromes with mutations in the RAS/MAPK pathway.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2700, doi. 10.1002/ajmg.a.35519
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- Publication type:
- Article
Clarification of intellectual abilities in patients with GLI2 mutations cited by kevelam et al., 2012 Am J med genet part A.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1519, doi. 10.1002/ajmg.a.35317
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- Article
Variable ACTH-stimulated 17-hydroxyprogesterone values in 21-hydroxylase deficiency carriers are not related to the different CYP21 gene mutations.
- Published in:
- 2002
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- Publication type:
- journal article
Discordant Genotypic Sex and Phenotype Variations in Two Spanish Siblings with 17α-Hydroxylase/17,20-Lyase Deficiency Carrying the Most Prevalent Mutated CYP17A1 Alleles of Brazilian Patients.
- Published in:
- Sexual Development, 2017, v. 11, n. 2, p. 70, doi. 10.1159/000468160
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- Publication type:
- Article
IGF-1 assessed by pubertal status has the best positive predictive power for GH deficiency diagnosis in peripubertal children.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2019, v. 32, n. 2, p. 173, doi. 10.1515/jpem-2018-0435
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- Publication type:
- Article
Adult Height of Patients with SHOX Haploinsufficiency with or without GH Therapy: A Real-World Single-Center Study.
- Published in:
- Hormone Research in Paediatrics, 2022, v. 95, n. 3, p. 264, doi. 10.1159/000524374
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- Publication type:
- Article
Adult Height in 299 Patients with Turner Syndrome with or without Growth Hormone Therapy: Results and Literature Review.
- Published in:
- Hormone Research in Paediatrics, 2021, v. 94, n. 1-2, p. 63, doi. 10.1159/000516869
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- Publication type:
- Article
A Bayesian Approach to Diagnose Growth Hormone Deficiency in Children: Insulin-Like Growth Factor Type 1 Is Valuable for Screening and IGF-Binding Protein Type 3 for Confirmation.
- Published in:
- Hormone Research in Paediatrics, 2020, v. 93, n. 3, p. 197, doi. 10.1159/000509840
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- Publication type:
- Article
Additional Considerations to the Ethics of Growth Promotion and Challenges to Human Growth Hormone (hGH)-for-Height Therapy.
- Published in:
- 2017
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- Publication type:
- Letter to the Editor
Role of the Natriuretic Peptide System in Normal Growth and Growth Disorders.
- Published in:
- Hormone Research in Paediatrics, 2014, v. 82, n. 4, p. 222, doi. 10.1159/000365049
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- Publication type:
- Article
The Sitting Height/Height Ratio for Age in Healthy and Short Individuals and Its Potential Role in Selecting Short Children for SHOX Analysis.
- Published in:
- Hormone Research in Paediatrics, 2014, v. 80, n. 6, p. 449, doi. 10.1159/000355411
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- Publication type:
- Article
Molecular and Gene Network Analysis of Thyroid Transcription Factor 1 (TTF1) and Enhanced at Puberty (EAP1) Genes in Patients with GnRH-Dependent Pubertal Disorders.
- Published in:
- Hormone Research in Paediatrics, 2013, v. 80, n. 4, p. 257, doi. 10.1159/000354643
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- Publication type:
- Article
GH-Releasing Hormone Receptor Gene: A Novel Splice-Disrupting Mutation and Study of Founder Effects.
- Published in:
- Hormone Research in Paediatrics, 2012, v. 78, n. 3, p. 165, doi. 10.1159/000342760
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- Publication type:
- Article
A novel point mutation (R840S) in the androgen receptor in a Brazilian family with partial androgen insensitivity syndrome.
- Published in:
- Human Mutation, 1999, v. 14, n. 4, p. 353, doi. 10.1002/(SICI)1098-1004(199910)14:4<353::AID-HUMU16>3.0.CO;2-7
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- Publication type:
- Article
Low Frequency of CYP21B Deletions in Brazilian Patients with Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.
- Published in:
- Human Heredity, 1999, v. 49, n. 1, p. 9, doi. 10.1159/000022833
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- Publication type:
- Article
HESX1 mutations in patients with congenital hypopituitarism: variable phenotypes with the same genotype.
- Published in:
- Clinical Endocrinology, 2016, v. 85, n. 3, p. 408, doi. 10.1111/cen.13067
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- Publication type:
- Article
The first homozygous mutation (S226I) in the highly-conserved WSXWS-like motif of the GH receptor causing Laron syndrome: supression of GH secretion by GnRH analogue therapy not restored by dihydrotestosterone administration.
- Published in:
- Clinical Endocrinology, 2004, v. 60, n. 1, p. 36, doi. 10.1111/j.1365-2265.2004.01930.x
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- Publication type:
- Article
Clinical features of women with resistance to luteinizing hormone.
- Published in:
- Clinical Endocrinology, 1999, v. 51, n. 6, p. 701, doi. 10.1046/j.1365-2265.1999.00863.x
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- Publication type:
- Article