Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Jonathan M. Swartz"'
Publikováno v:
Urology. 101:1-8
Disorders of sex development are challenging to evaluate and diagnose in the newborn. As pediatric urologists, our goals are to (1) identify patients who should be evaluated; (2) rule out life-threatening syndromes; and (3) involve a multidisciplinar
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::044639e10c0813bec2cfa5b58ef11394
https://doi.org/10.1016/j.urology.2016.08.010
https://doi.org/10.1016/j.urology.2016.08.010
Autor:
Malcolm A. Matheson, Ryan Heksch, Jonathan M. Swartz, Claudia J. Harrison, Leena Nahata, Venkata R. Jayanthi, Yee-Ming Chan, Amy C. Tishelman, David A. Diamond
Publikováno v:
Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists. 25(8)
Objective: The purpose of this study was to assess clinical practice patterns with regard to diagnosis and management of testicular regression syndrome (TRS), a condition in 46,XY males with male phenotypic genitalia and bilateral absence of testes.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d831deb744d317e413365d8c8e99ac7
https://pubmed.ncbi.nlm.nih.gov/31013155
https://pubmed.ncbi.nlm.nih.gov/31013155
Publikováno v:
Pediatric Urology for Primary Care
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::55656e2cbfef77271318af0c34424367
https://doi.org/10.1542/9781610022545-ch14
https://doi.org/10.1542/9781610022545-ch14
Autor:
Benjamin Weaver, Joel N. Hirschhorn, Aser Abrha, Yee-Ming Chan, Ryan Ciarlo, Jonathan M. Swartz, Michael H. Guo, David A. Diamond
Publikováno v:
Hormone Research in Paediatrics. 87:191-195
Background: A variant in steroidogenic factor-1 (SF-1, encoded by the gene NR5A1), p.Arg92Trp, has recently been reported in multiple families with 46,XX ovotesticular or testicular disorders of sex development (DSD). This amino acid change impacts t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0ba8486bd55ae527f3207f1656698963
https://doi.org/10.1159/000452888
https://doi.org/10.1159/000452888
Publikováno v:
Journal of pediatric urology. 14(5)
Summary Introduction A central ethical dilemma in management of the patient with a disorder of sex development (DSD) is the potential conflict between respect for the fundamental right of the child for physical and emotional integrity and self-determ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3510d5a654e487a4318fd6d72b3902f3
https://pubmed.ncbi.nlm.nih.gov/29903608
https://pubmed.ncbi.nlm.nih.gov/29903608
Autor:
Thomas F. Kolon, Diane Felsen, Amy B. Wisniewski, David A. Diamond, Yegappan Lakshmanan, Laurence S. Baskin, Paul F. Austin, Saul P. Greenfield, Pramod P. Reddy, Blake Palmer, Marion Schulte, Jonathan M. Swartz, Allyson Fried, Alethea Paradis, Sabrina Meyer, Dix P. Poppas, Kerlly J. Bernabé, Natalie J. Nokoff, Earl Y. Cheng, Rebecca E.H. Ellens, Yee-Ming Chan, Bradley P. Kropp, Cortney Wolfe-Christensen, Elizabeth B. Yerkes, Theresa Meyer, Denise Galan, Christopher E. Aston, L.L. Mullins, K.J. Scott Reyes, A.M. Delozier
Publikováno v:
Journal of pediatric urology. 14(2)
Summary Introduction Prior studies of outcomes following genitoplasty have reported high rates of surgical complications among children with atypical genitalia. Few studies have prospectively assessed outcomes after contemporary surgical approaches.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64328cd47d5a31d81a4cf0d29603b4c6
https://pubmed.ncbi.nlm.nih.gov/29398588
https://pubmed.ncbi.nlm.nih.gov/29398588
Autor:
Yee-Ming Chan, Joel N. Hirschhorn, Aser Abrha, Ryan Ciarlo, E. Denhoff, David A. Diamond, Jonathan M. Swartz
Background Bifid scrotum and hypospadias can be signs of undervirilization, yet boys presenting with these findings often do not undergo genetic evaluation. In some cases, identifying an underlying genetic diagnosis can help to optimize clinical care
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::467994a07889792ef7e28e44ce597ef3
https://europepmc.org/articles/PMC5483185/
https://europepmc.org/articles/PMC5483185/
Autor:
Pedro A. Sanchez-Lara, Alexander A. L. Jorge, Andrew Dauber, Lenka Elblova, Evan Los, Jeffrey Baron, Nancy Dunbar, Ariadna Gonzalez Del Angel, Karen E. Heath, Emma Segerlund, Jan Fairchild, Melissa K. Crocker, Mariana F A Funari, Ola Nilsson, Yuezhen Lin, Jessica Douglas, Sinhue Diaz Cuellar, Eva-Lena Stattin, Catherine Nowak, Leah Tyzinski, Marwan Shinawi, Melissa Andrew, Lucia Sentchordi, Hidekazu Hosono, Alexandra Gkourogianni, Vivian Hwa, Jadranka Popovic, Tracey Kurtzman, Jose Bernardo Quintos, Micah L. Olson, Stepanka Pruhova, Stephen H. LaFranchi, Seema R. Lalani, Dorothee Newbern, Jan Lebl, Jonathan M. Swartz
Publikováno v:
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Consejería de Sanidad de la Comunidad de Madrid
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Context: Heterozygous mutations in the aggrecan gene (ACAN) cause autosomal dominant short stature with accelerated skeletal maturation. Objective: We sought to characterize the phenotypic spectrum and response to growth-promoting therapies. Patients
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b514890f134a70606a3c9ca8c7fbd1db
https://hdl.handle.net/20.500.12530/33408
https://hdl.handle.net/20.500.12530/33408
Autor:
Jonathan M. Swartz, Ron G. Rosenfeld, Shayne Andrew, Ayşehan Akıncı, Vivian Hwa, Andrew Dauber, Joel N. Hirschhorn, Ahmet Sigirci
Publikováno v:
Hormone Research in Paediatrics. 82:344-352
Background: Cockayne syndrome is an autosomal recessive, heterogeneous syndrome with classical features, including short stature, microcephaly, developmental delay, neuropathy, and photosensitivity. New genomic approaches offer improved molecular dia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::24682686d55a0392cd0cb9c28dd5e11d
https://doi.org/10.1159/000368192
https://doi.org/10.1159/000368192
Publikováno v:
Current opinion in urology. 27(1)
Disorders of sex development (DSD) are a diverse group of conditions affecting gonadal development, sexual differentiation, or chromosomal sex. In this review, we will discuss recent literature on the genetic causes of DSD, with a focus on novel gene
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a87192272c662642996c91995e29c187
https://pubmed.ncbi.nlm.nih.gov/27798415
https://pubmed.ncbi.nlm.nih.gov/27798415