Works matching IS 16615425 AND DT 2022 AND VI 16 AND IP 1

Results: 12

A Small Supernumerary Xp Marker Chromosome Including Genes NR0B1 and MAGEB Causing Partial Gonadal Dysgenesis and Gonadoblastoma.

Published in:

2022

By:

Nishi, Mirian Yumie;
Faria Júnior, José Antônia Diniz;
Krepischi, Ana Cristina Victorino;
de Moraes, Daniela Rodrigues;
da Costa, Silvia Souza;
Silva, Elinaelma Suelane do Nascimento;
Costa, Elaine Maria Frade;
Mendonca, Berenice Bilharinho;
Domenice, Sorahia

Publication type:

Case Study

9th International Symposium in Disorders/Differences of Sex Development.

Published in:: Sexual Development, 2022, v. 16, n. 1, p. 1, doi. 10.1159/000525564
Publication type:: Article

Front & Back Matter.

Published in:: Sexual Development, 2022, v. 16, n. 1, p. 1, doi. 10.1159/000521955
Publication type:: Article

Erratum.

Published in:: 2022
Publication type:: Correction Notice

Erratum.

Published in:: 2022
Publication type:: Correction Notice

3β-Hydroxysteroid Dehydrogenase Type 2 (3βHSD2) Deficiency due to a Novel Compound Heterozygosity of a Missense Mutation (p.Thr259Met) and Frameshift Deletion (p.Lys273ArgFs*7) in an Undervirilized Infant Male with Salt Wasting.

Published in:

Sexual Development, 2022, v. 16, n. 1, p. 64, doi. 10.1159/000519062

By:

Leka-Emiri, Sofia;
Taibi, Ludmia;
Mavroeidi, Vasiliki;
Vlachopapadopoulou, Elpis A.;
Kafetzi, Maria;
Michalacos, Stefanos;
de Roux, Nicolas

Publication type:

Article

Clinical, Biochemical, and Molecular Characterization of Indian Children with Clinically Suspected Androgen Insensitivity Syndrome.

Published in:

Sexual Development, 2022, v. 16, n. 1, p. 34, doi. 10.1159/000519047

By:

Kumar, Anil;
Sharma, Rajni;
Faruq, Mohammed;
Kumar, Manoj;
Sharma, Shilpa;
Werner, Ralf;
Hiort, Olaf;
Vandana, Jain

Publication type:

Article

Genetic and Epigenetic Control of Puberty.

Published in:

Sexual Development, 2022, v. 16, n. 1, p. 1, doi. 10.1159/000519039

By:

Manotas, María Carolina;
González, Daniel Mauricio;
Céspedes, Camila;
Forero, Catalina;
Rojas Moreno, Adriana Patricia

Publication type:

Article

Can Boys Have Turner Syndrome? More than a Question of Semantics.

Published in:

Sexual Development, 2022, v. 16, n. 1, p. 19, doi. 10.1159/000518092

By:

Knoll, Michelle M.;
Strickland, Julie;
Jacobson, Jill D.

Publication type:

Article

WT1 Pathogenic Variants are Associated with a Broad Spectrum of Differences in Sex Development Phenotypes and Heterogeneous Progression of Renal Disease.

Published in:

2022

By:

Ferrari, Maria T.M.;
Watanabe, Andreia;
da Silva, Thatiane E.;
Gomes, Nathalia L.;
Batista, Rafael L.;
Nishi, Mirian Y.;
de Paula, Leila C.P.;
Costa, Eduardo C.;
Costa, Elaine M.F.;
Cukier, Priscilla;
Onuchic, Luiz F.;
Mendonca, Berenice B.;
Domenice, Sorahia

Publication type:

Case Study

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

Published in:

Sexual Development, 2022, v. 16, n. 1, p. 27, doi. 10.1159/000518091

By:

Leitao Braga, Barbara;
Lisboa Gomes, Nathalia;
Nishi, Mirian Y.;
Freire, Bruna L.;
Batista, Rafael L.;
D. Faria Junior, Jose A.;
Funari, Mariana F.A.;
Figueredo Benedetti, Anna F.;
de Moraes Narcizo, Amanda;
Cavalca Cardoso, Lais;
Lerario, Antonio M.;
Guerra-Junior, Gil;
Frade Costa, Elaine M.;
Domenice, Sorahia;
Jorge, Alexander A.L.;
Mendonca, Berenice B.

Publication type:

Article

A Nationwide Study of the Prevalence and Initial Management of Atypical Genitalia in the Newborn in Scotland.

Published in:

2022

By:

Rodie, Martina E.;
Ali, Salma R.;
Jayasena, Arundathi;
Alenazi, Naser R.;
McMillan, Martin;
Cox, Kathryn;
Cassim, Sumaiya M.;
Henderson, Stuart;
McGowan, Ruth;
Ahmed, S. Faisal

Publication type:

Case Study