Mara Sanches Guaragna

About Mara Sanches Guaragna

Mara Sanches Guaragna, With an exceptional h-index of 9 and a recent h-index of 7 (since 2020), a distinguished researcher at Universidade Estadual de Campinas, specializes in the field of genética médica, genética molecular humana, biologia molecular.

His recent articles reflect a diverse array of research interests and contributions to the field:

Syndromic Retinitis Pigmentosa: A 15-Patient Study

X‐linked congenital adrenal hypoplasia: Report of long clinical follow‐up and description of a new complex variant in the NR0B1 gene

Prenatal Findings in Postnatal Cases of Disorders of Sex Development: Experience from a Tertiary-Specialized Center in Brazil

DHX37 and the implications in Disorders of Sex Development: an update review.

Are NR5A1 Variations a Frequent Cause of 46,XX Ovotesticular Disorders of Sex Development? Analysis from a Single Center and Systematic Review

SOX3 duplication in a boy with 46,XX ovotesticular disorder of sex development and his 46,XX sister with atypical genitalia: Probable germline mosaicism

Can non-coding NR5A1 gene variants explain phenotypes of disorders of sex development?

Trends in Time Regarding Sex Assignment of Patients with Disorders of Sex Development: Experience of an Interdisciplinary Service

Mara Sanches Guaragna Information

University

Position

Pos Doutoranda

Citations(all)

229

Citations(since 2020)

139

Cited By

155

hIndex(all)

9

hIndex(since 2020)

7

i10Index(all)

9

i10Index(since 2020)

6

Email

University Profile Page

Google Scholar

Mara Sanches Guaragna Skills & Research Interests

genética médica

genética molecular humana

biologia molecular

Top articles of Mara Sanches Guaragna

Syndromic Retinitis Pigmentosa: A 15-Patient Study

Genes

2024/4/20

Mara Sanches Guaragna
Mara Sanches Guaragna

H-Index: 8

Vera Lúcia Gil-Da-Silva-Lopes
Vera Lúcia Gil-Da-Silva-Lopes

H-Index: 15

X‐linked congenital adrenal hypoplasia: Report of long clinical follow‐up and description of a new complex variant in the NR0B1 gene

American Journal of Medical Genetics Part A

2024/1/19

Maricilda Palandi De Mello
Maricilda Palandi De Mello

H-Index: 17

Mara Sanches Guaragna
Mara Sanches Guaragna

H-Index: 8

Prenatal Findings in Postnatal Cases of Disorders of Sex Development: Experience from a Tertiary-Specialized Center in Brazil

Fetal Diagnosis and Therapy

2024/1/4

DHX37 and the implications in Disorders of Sex Development: an update review.

2023/12/23

Are NR5A1 Variations a Frequent Cause of 46,XX Ovotesticular Disorders of Sex Development? Analysis from a Single Center and Systematic Review

2023/2/14

SOX3 duplication in a boy with 46,XX ovotesticular disorder of sex development and his 46,XX sister with atypical genitalia: Probable germline mosaicism

American Journal of Medical Genetics Part A

2023/2

Mara Sanches Guaragna
Mara Sanches Guaragna

H-Index: 8

Maricilda Palandi De Mello
Maricilda Palandi De Mello

H-Index: 17

Can non-coding NR5A1 gene variants explain phenotypes of disorders of sex development?

Sexual Development

2022/12/28

Trends in Time Regarding Sex Assignment of Patients with Disorders of Sex Development: Experience of an Interdisciplinary Service

Sexual Development

2022/12/28

Clinical and laboratory differences between chromosomal and undefined causes of non-obstructive azoospermia: A retrospective study

Sao Paulo Medical Journal

2022/11/28

Sex dimorphism of weight and length at birth: evidence based on disorders of sex development

Annals of human biology

2022/11/17

Bilateral Wilms’ tumor in a child with Denys-Drash syndrome: novel frameshift variant disrupts the WT1 nuclear location signaling region

Journal of Pediatric Endocrinology and Metabolism

2022/6/27

Mara Sanches Guaragna
Mara Sanches Guaragna

H-Index: 8

Maricilda Palandi De Mello
Maricilda Palandi De Mello

H-Index: 17

APOL1 in an ethnically diverse pediatric population with nephrotic syndrome: implications in focal segmental glomerulosclerosis and other diagnoses

Pediatric Nephrology

2021/8

Association between Down Syndrome and Disorders of Sex Development: Report of Three Cases and Review of 188 Cases in the Literature

Sexual Development

2021/7/30

Sex Dimorphism of Birth Weight and Length: Evidence Based on Disorders of Sex Development

2021/5/17

Promises and pitfalls of whole-exome sequencing exemplified by a nephrotic syndrome family

Molecular Genetics and Genomics

2020/1

Mara Sanches Guaragna
Mara Sanches Guaragna

H-Index: 8

Maricilda Palandi De Mello
Maricilda Palandi De Mello

H-Index: 17

Por que os pediatras precisam conhecer os distúrbios da diferenciação do sexo: experiência de 709 casos de um serviço especializado

Jornal de Pediatria

2020/11/11

Why pediatricians need to know the disorders of sex development: experience of 709 cases in a specialized service

Jornal de pediatria

2020/11/11

MON-056 Rare X Chromosome Pericentric Inversion Associated with Ovotesticular Disorder of Sex Development

Journal of the Endocrine Society

2020/4

SUN-086 Pilot Study Using Aromatase Inhibitor in Puberty of Boys With Partial Androgen Insensitivity: Report of Three Cases

Journal of the Endocrine Society

2020/4

Brazilian network of pediatric nephrotic syndrome (REBRASNI)

Kidney international reports

2020/3/1

See List of Professors in Mara Sanches Guaragna University(Universidade Estadual de Campinas)