Insights from a Wolfram syndrome cohort: clinical and molecular findings from a specialized diabetes reference center

Authors: Carolina Paniago Lopes, Gentil Ferreira Gonçalves Neto, Maria Fernanda Vanti Macedo Paulino, Adriana Mangue Esquiaveto-Aun, Maricilda Palandi de Mello, Elizabeth João Pavin, Ikaro Soares Santos Breder, Mariana Zorron Mei Hsia Pu, Sofia Helena Valente de Lemos-Marini, Gil Guerra Junior

Source: Archives of Endocrinology and Metabolism, Vol 68 (2024)

Subject Terms: Wolfram syndrome, wolframin, WFS1, CISD2, diabetes mellitus, diabetes insipidus, Medicine, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

File Description: electronic resource

Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2359-39972024000100365&lng=en&tlng=en; http://www.scielo.br/pdf/aem/v68/2359-4292-aem-68-e240091.pdf; https://doaj.org/toc/2359-4292

Access URL: https://doaj.org/article/cbf3da5adedf4723adfdf888d2ce1a13

So, and if it is not congenital adrenal hyperplasia? Addressing an undiagnosed case of genital ambiguity

Authors: Reinaldo Luna de Omena Filho, Reginaldo José Petroli, Fernanda Caroline Soardi, Débora de Paula Michelatto, Taís Nitsch Mazzola, Helena Fabbri-Scallet, Maricilda Palandi de Mello, Susane Vasconcelos Zanotti, Ida Cristina Gubert, Isabella Monlleo

Source: Italian Journal of Pediatrics, Vol 48, Iss 1, Pp 1-6 (2022)

Subject Terms: Rare disease, Ambiguous genitalia, HSD17B3 deficiency, Novel variant, Case report, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://doaj.org/toc/1824-7288

Access URL: https://doaj.org/article/d59a302f2a2d4581a58aa32ae25e35e3

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

Authors: Luísa Riccetto, Tarsis Paiva Vieira, Nilma Lucia Viguetti-Campos, Tais Nitsch Mazzola, Mara Sanches Guaragna, Helena Fabbri-Scallet, Maricilda Palandi de Mello, Antonia Paula Marques-de-Faria, Andrea Trevas Maciel-Guerra, Gil Guerra Junior

Source: São Paulo Medical Journal (2022)

Subject Terms: Sperm count, Infertility, Gonadotropins, Disorders of sex development, Arm span, Height, Sexual development disorders, Medicine

File Description: electronic resource

Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31802022005029201&tlng=en; https://doaj.org/toc/1806-9460

Access URL: https://doaj.org/article/43cb5aac28cd44e196b1b2b76f0d93da

Androgens by immunoassay and mass spectrometry in children with 46,XY disorder of sex development

Authors: Letícia Ribeiro Oliveira, Carlos Alberto Longui, Guilherme Guaragna-Filho, José Luiz Costa, Rafael Lanaro, David Antônio Silva, Maria Izabel Chiamolera, Maricilda Palandi de Mello, André Moreno Morcillo, Andrea Trevas Maciel-Guerra, Gil Guerra-Junior

Source: Endocrine Connections, Vol 9, Iss 11, Pp 1085-1094 (2020)

Subject Terms: testosterone, testicles, androstenedione, androgen insensitivity syndrome, 5α-reductase, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

File Description: electronic resource

Relation: https://ec.bioscientifica.com/view/journals/ec/9/11/EC-20-0454.xml; https://doaj.org/toc/2049-3614

Access URL: https://doaj.org/article/9fe49c78dc1442e79c4a079f727a6441

Leydig and Sertoli cell function in individuals with genital ambiguity, 46,XY karyotype, palpable gonads and normal testosterone secretion: a case-control study

Authors: Guilherme Guaragna-Filho, Antônio Ramos Calixto, Anna Beatriz Lima do Valle Astur, Georgette Beatriz de Paula, Laurione Cândido de Oliveira, André Moreno Morcillo, Ezequiel Moreira Gonçalves, Maricilda Palandi de Mello, Andrea Trevas Maciel-Guerra, Gil Guerra-Junior

Source: São Paulo Medical Journal (2022)

Subject Terms: Inhibin B [supplementary concept], Disorders of sex development, Sertoli cells, Leydig cells, DSD, Ambiguous genitalia, INSL3, AMH, Medicine

File Description: electronic resource

Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31802022005003201&lng=en&tlng=en; http://www.scielo.br/pdf/spmj/2022nahead/1806-9460-spmj-1516-3180-2021-0042-r1-08062021.pdf; https://doaj.org/toc/1806-9460

Access URL: https://doaj.org/article/4bfacdf32ec54db19ea35d2847541e0a

DHX37 and NR5A1 Variants Identified in Patients with 46,XY Partial Gonadal Dysgenesis

Authors: Felipe Rodrigues de Oliveira, Taís Nitsch Mazzola, Maricilda Palandi de Mello, Ana Paula Francese-Santos, Sofia Helena V. de Lemos-Marini, Andrea Trevas Maciel-Guerra, Olaf Hiort, Ralf Werner, Gil Guerra-Junior, Helena Fabbri-Scallet

Source: Life, Vol 13, Iss 5, p 1093 (2023)

Subject Terms: DHX37, NR5A1, disorders of sex development, gonadal dysgenesis, Science

File Description: electronic resource

Relation: https://www.mdpi.com/2075-1729/13/5/1093; https://doaj.org/toc/2075-1729

Access URL: https://doaj.org/article/c7ac1de1023e4cebaa36d633c47c12ee

Dopamine D2 receptor gene polymorphisms and externalizing behaviors in children and adolescents

Authors: Osmar Henrique Della Torre, Lúcia Arisaka Paes, Taciane Barbosa Henriques, Maricilda Palandi de Mello, Eloisa Helena Rubello Valler Celeri, Paulo Dalgalarrondo, Gil Guerra-Júnior, Amilton dos Santos-Júnior

Source: BMC Medical Genetics, Vol 19, Iss 1, Pp 1-9 (2018)

Subject Terms: Genetic polymorphism, Dopamine, Behavior, c.957C > T polymorphism, c.-585A > G polymorphism, Internal medicine, RC31-1245, Genetics, QH426-470

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s12881-018-0586-9; https://doaj.org/toc/1471-2350

Access URL: https://doaj.org/article/ae6c72ab21c34507900b829fd6dc665f

Corrigendum to 'Pharmacogenetics of Risperidone and Cardiovascular Risk in Children and Adolescents'

Authors: Amilton Dos Santos-Júnior, Taciane Barbosa Henriques, Maricilda Palandi de Mello, Osmar Henrique Della Torre, Lúcia Arisaka Paes, Adriana Perez Ferreira-Neto, Letícia Esposito Sewaybricker, Thiago Salum Fontana, Eloisa Helena Rubello Valler Celeri, Gil Guerra-Júnior, Paulo Dalgalarrondo

Source: International Journal of Endocrinology, Vol 2017 (2017)

Subject Terms: Diseases of the endocrine glands. Clinical endocrinology, RC648-665

File Description: electronic resource

Relation: https://doaj.org/toc/1687-8337; https://doaj.org/toc/1687-8345

Access URL: https://doaj.org/article/46fa639e7c914e3c8148ccaa61722458

An illustrative case of Léri-Weill dyschondrosteosis

Authors: Renata de Lima, Cristina Forti Iamada, Luciana Oliveira Silva, Maricilda Palandi de Mello, Andréa Trevas Maciel-Guerra

Source: Genetics and Molecular Biology, Vol 31, Iss 4, Pp 839-842 (2008)

Subject Terms: Léri-Weill dyschondrosteosis, Madelung's deformity, pseudoautosomal dominant inheritance, short stature, SHOX gene, Genetics, QH426-470

File Description: electronic resource

Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572008000500007; https://doaj.org/toc/1415-4757; https://doaj.org/toc/1678-4685

Access URL: https://doaj.org/article/61422cb2a536496d84d3d78b879a492d

Functional and Structural Consequences of Nine CYP21A2 Mutations Ranging from Very Mild to Severe Effects

Authors: Débora de Paula Michelatto, Leif Karlsson, Ana Letícia Gori Lusa, Camila D’Almeida Mgnani Silva, Linus Joakim Östberg, Bengt Persson, Gil Guerra-Júnior, Sofia Helena Valente de Lemos-Marini, Michela Barbaro, Maricilda Palandi de Mello, Svetlana Lajic

Source: International Journal of Endocrinology, Vol 2016 (2016)

Subject Terms: Diseases of the endocrine glands. Clinical endocrinology, RC648-665

File Description: electronic resource

Relation: https://doaj.org/toc/1687-8337; https://doaj.org/toc/1687-8345

Access URL: https://doaj.org/article/c14892cd77774b48826f166ccbcde065

408 Cases of Genital Ambiguity Followed by Single Multidisciplinary Team during 23 Years: Etiologic Diagnosis and Sex of Rearing

Authors: Georgette Beatriz De Paula, Beatriz Amstalden Barros, Stela Carpini, Bruna Jordan Tincani, Tais Nitsch Mazzola, Mara Sanches Guaragna, Cristiane Santos da Cruz Piveta, Laurione Candido de Oliveira, Juliana Gabriel Ribeiro Andrade, Guilherme Guaragna-Filho, Pedro Perez Barbieri, Nathalia Montibeler Ferreira, Marcio Lopes Miranda, Ezequiel Moreira Gonçalves, Andre Moreno Morcillo, Nilma Lucia Viguetti-Campos, Sofia Helena Valente Lemos-Marini, Roberto Benedito de Paiva Silva, Antonia Paula Marques-de-Faria, Maricilda Palandi De Mello, Andrea Trevas Maciel-Guerra, Gil Guerra-Junior

Source: International Journal of Endocrinology, Vol 2016 (2016)

Subject Terms: Diseases of the endocrine glands. Clinical endocrinology, RC648-665

File Description: electronic resource

Relation: https://doaj.org/toc/1687-8337; https://doaj.org/toc/1687-8345

Access URL: https://doaj.org/article/30ead1c5129f4ee9a6bd38be2f250503

Pharmacogenetics of Risperidone and Cardiovascular Risk in Children and Adolescents

Authors: Amilton Dos Santos-Júnior, Taciane Barbosa Henriques, Maricilda Palandi de Mello, Osmar Henrique Della Torre, Lúcia Arisaka Paes, Adriana Perez Ferreira-Neto, Letícia Esposito Sewaybricker, Thiago Salum Fontana, Eloisa Helena Rubello Valler Celeri, Gil Guerra-Júnior, Paulo Dalgalarrondo

Source: International Journal of Endocrinology, Vol 2016 (2016)

Subject Terms: Diseases of the endocrine glands. Clinical endocrinology, RC648-665

File Description: electronic resource

Relation: https://doaj.org/toc/1687-8337; https://doaj.org/toc/1687-8345

Access URL: https://doaj.org/article/d7b533f9b895486ca4b4a8c5523f52cd

Long-Term Follow-Up of Patients with 46,XY Partial Gonadal Dysgenesis Reared as Males

Authors: Juliana Gabriel Ribeiro de Andrade, Antonia Paula Marques-de-Faria, Helena Campos Fabbri, Maricilda Palandi de Mello, Gil Guerra-Júnior, Andréa Trevas Maciel-Guerra

Source: International Journal of Endocrinology, Vol 2014 (2014)

Subject Terms: Diseases of the endocrine glands. Clinical endocrinology, RC648-665

File Description: electronic resource

Relation: https://doaj.org/toc/1687-8337; https://doaj.org/toc/1687-8345

Access URL: https://doaj.org/article/d33df0f356824bcbb96c1a49a45c2c98

Clinical and Laboratorial Features That May Differentiate 46,XY DSD due to Partial Androgen Insensitivity and 5α-Reductase Type 2 Deficiency

Authors: Nélio Neves Veiga-Junior, Pedro Augusto Rodrigues Medaets, Reginaldo José Petroli, Flávia Leme Calais, Maricilda Palandi de Mello, Carla Cristina Telles de Sousa Castro, Guilherme Guaragna-Filho, Letícia Espósito Sewaybricker, Antonia Paula Marques-de-Faria, Andréa Trevas Maciel-Guerra, Gil Guerra-Junior

Source: International Journal of Endocrinology, Vol 2012 (2012)

Subject Terms: Diseases of the endocrine glands. Clinical endocrinology, RC648-665

File Description: electronic resource

Relation: https://doaj.org/toc/1687-8337; https://doaj.org/toc/1687-8345

Access URL: https://doaj.org/article/e11220d68b574b6abef1bda6c207e812

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Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a cross-sectional study of factors involved in bone mineral density.

Authors: PatrÌcia Oliveira de Almeida Freire, Sofia Helena Valente de Lemos-Marini, AndrÈa Trevas Maciel-Guerra, AndrÈ Moreno Morcillo, Maria Tereza Matias Baptista, Maricilda Palandi de Mello, Gil Guerra Jr.

Source: Journal of Bone & Mineral Metabolism; Nov2003, Vol. 21 Issue 6, p396, 6p

Subject Terms: GLUCOCORTICOIDS, ANDROGENS, HYPERPLASIA treatment, ENDOCRINOLOGY

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A de novo mutation in CYP21A2 gene in a case of in vitro fertilization

Authors: Roseane Lopes da Silva-Grecco, Débora de Paula Michelatto, Carolina Rodrigues Lincoln-de-Carvalho, Pamela Pontes Henrique, Heloísa Marcelina da Cunha, Maricilda Palandi-de-Mello

Source: Molecular Genetics and Metabolism Reports, Vol 5, Iss C, Pp 98-102 (2015)

Subject Terms: CYP21A2 gene, CYP21A1 pseudo gene, 21-Hydroxylase deficiency, Congenital adrenal hyperplasia, In vitro fertilization, Non-classical CAH form, Medicine (General), R5-920, Biology (General), QH301-705.5

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S221442691530046X; https://doaj.org/toc/2214-4269

Access URL: https://doaj.org/article/eb104eadc22b4e62a490f0efa0d4f839