Search

Your search keyword '"Funari MFA"' showing total 30 results

Search Constraints

Start Over You searched for: Author "Funari MFA" Remove constraint Author: "Funari MFA"
30 results on '"Funari MFA"'

Search Results

1. Identification of a second genetic alteration in patients with SHOX deficiency individuals: a potential explanation for phenotype variability.

2. Evidence for a Founder Effect of SDHB Exon 1 Deletion in Brazilian Patients With Paraganglioma.

3. Diagnostic yield of a multigene sequencing approach in children classified as idiopathic short stature.

4. Targeted massively parallel sequencing panel to diagnose genetic endocrine disorders in a tertiary hospital.

5. Adult Height of Patients with SHOX Haploinsufficiency with or without GH Therapy: A Real-World Single-Center Study.

6. Variants in 46,XY DSD-Related Genes in Syndromic and Non-Syndromic Small for Gestational Age Children with Hypospadias.

7. Allelic Variants in Established Hypopituitarism Genes Expand Our Knowledge of the Phenotypic Spectrum.

8. Noonan syndrome patients beyond the obvious phenotype: A potential unfavorable metabolic profile.

9. Insights from the genetic characterization of central precocious puberty associated with multiple anomalies.

10. Screening of targeted panel genes in Brazilian patients with primary ovarian insufficiency.

11. Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants.

12. High Prevalence of Alterations in DNA Mismatch Repair Genes of Lynch Syndrome in Pediatric Patients with Adrenocortical Tumors Carrying a Germline Mutation on TP53 .

13. Growth Hormone insensitivity (Laron syndrome): Report of a new family and review of Brazilian patients.

14. SELAdb: A database of exonic variants in a Brazilian population referred to a quaternary medical center in São Paulo.

15. Genetic Disorders in Prenatal Onset Syndromic Short Stature Identified by Exome Sequencing.

16. Evaluation of SHOX defects in the era of next-generation sequencing.

17. Exome Sequencing Reveals the POLR3H Gene as a Novel Cause of Primary Ovarian Insufficiency.

18. Multigene Sequencing Analysis of Children Born Small for Gestational Age With Isolated Short Stature.

19. Genetic diagnosis of congenital hypopituitarism by a target gene panel: novel pathogenic variants in GLI2, OTX2 and GHRHR.

20. Two rare loss-of-function variants in the STAG3 gene leading to primary ovarian insufficiency.

21. Impact of Growth Hormone Therapy on Adult Height in Patients with PTPN11 Mutations Related to Noonan Syndrome.

22. Growth and Clinical Characteristics of Children with Floating-Harbor Syndrome: Analysis of Current Original Data and a Review of the Literature.

23. BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells.

24. Homozygous loss of function BRCA1 variant causing a Fanconi-anemia-like phenotype, a clinical report and review of previous patients.

25. Identification of the first homozygous 1-bp deletion in GDF9 gene leading to primary ovarian insufficiency by using targeted massively parallel sequencing.

26. IHH Gene Mutations Causing Short Stature With Nonspecific Skeletal Abnormalities and Response to Growth Hormone Therapy.

27. Mutations in C-natriuretic peptide (NPPC): a novel cause of autosomal dominant short stature.

28. A novel homozygous 1-bp deletion in the NOBOX gene in two Brazilian sisters with primary ovarian failure.

29. Growth hormone insensitivity with immune dysfunction caused by a STAT5B mutation in the south of Brazil: evidence for a founder effect.

30. A Novel Homozygous Missense FSHR Variant Associated with Hypergonadotropic Hypogonadism in Two Siblings from a Brazilian Family.

Catalog

Books, media, physical & digital resources