搜索页_+XY+disorders+of+sex+development

设为首页

收藏本站

网站地图 | English | 公务邮箱

About the library

Background
History
Leadership
Organization

Readers' Guide

Opening Hours
Collections
Help Via Email

Publications

Electronic Information Resources

外文资源

Elsevier电子期刊(66)

在“Elsevier电子期刊”中，命中：66条，耗时：0.1079522 秒

在所有数据库中总计命中：116条

1.Novel cases of Tunisian patients with mutations in the gene encoding 17β-hydroxysteroid dehydrogenase type 3 and a founder effect

作者：Bochra Ben Rhouma^a ; ^{bochra.benrhouma@gmail.com} ; Fakhri Kallabi^a ; Nadia Mahfoudh^b ; Afif Ben Mahmoud^a ; Roger T. Engeli^c ; Hassen Kamoun^d ; Leila Keskes^a ; Alex Odermatt^c ; ^{alex.odermatt@unibas.ch} ; Neila Belguith^a ; ^d

关键词：46 ; XY disorders of sex development ; 17beta-hydroxysteroid dehydrogenase ; Mutation ; HSD17B3 ; Founder effect ; Male sexual development

刊名：The Journal of Steroid Biochemistry and Molecular Biology

出版年：2017

2.Disorders in the initial steps of steroid hormone synthesis

作者：Walter L. Miller ; ^{wlmlab@ucsf.edu}

关键词：ABC ; ATP-binding casette ; ACAT ; acyl-CoA ; cholesterol acyltransferase ; ALLO ; allopregnanolone ; CAH ; congenital adrenal hyperplasia ; CESD ; cholesterol ester storage disease ; CoA ; coenzyme A ; CYP ; cytochrome P450 ; DSD ; Disordered sexual development ; ER ; endoplasmic reticulum ; ERMES ; endoplasmic reticulum-mitochondria encounter structure ; FAD ; flavin adenine dinucleotide ; HDL ; High density lipoprotein ; HMG-CoA ; 3-hydroxy-3-methylglutaryl co-enzyme A ; HPBCD ; hydroxypropyl-β-cyclodextrin ; IMM ; inner m

刊名：The Journal of Steroid Biochemistry and Molecular Biology

出版年：2017

3.Persistent Mullerian Duct Syndrome presenting as irreducible inguinal hernia - A surprise surgical finding!

作者：V. Sekhon^a ; ^{virender.sekhon@gmail.com} ; M. Luthra^a ; G. Jevalikar^b

关键词：46 ; XY disorders of sex development ; Cryptorchidism ; Hernia inguinal ; Infant ; Male

刊名：Journal of Pediatric Surgery Case Reports

出版年：2017

4.Fertility in disorders of sex development: A review

作者：J.P. Van Batavia ; T.F. Kolon ; ^{kolon@email.chop.edu}

关键词：Disorders of sex development ; Genitalia ; Fertility ; Infertility ; Assisted reproduction techniques

刊名：Journal of Pediatric Urology

出版年：2016

5.Surgery in disorders of sex development (DSD) with a gender issue: If (why), when, and how?

作者：Pierre D.E. Mouriquand^a ; ^b ; ^{pierre.mouriquand@chu-lyon.fr" class="auth_mail" title="E-mail the corresponding author} ; Daniela Brindusa Gorduza^a ; ^b ; Claire-Lise Gay^a ; ^b ; Heino F.L. Meyer-Bahlburg^c ; ^d ; Linda Baker^e ; Laurence S. Baskin^f ; Claire Bouvattier^g ; ^h ; Luis H. Bragaⁱ ; Anthony C. Caldamone^j ; ^k ; Lise Duranteau^h ; ^l ; Alaa El Ghoneimi^m ; Terry W. Hensle^d ; Piet Hoebekeⁿ ; Martin Kaefer^o ; Nicolas Kalfa^p ; Thomas F. Kolon^q ; ^r ; Gianantonio Manzoni^s ; Pierre-Yves Mure^a ; ^b ; Agneta Nordenskjö ; ld^t ; J.L. Pippi Salle^u ; Dix Phillip Poppas^v ; Philip G. Ransley^w ; Richard C. Rink^p ; Romao Rodrigo^x ; ^y ; Lé ; on Sann^z ; Justine Schober^aa ; Hisham Sibai^ab ; Amy Wisniewski^ac ; Katja P. Wolffenbuttel^ad ; Peter Lee^ae

关键词：Disorders of sex development ; DSD ; Genital surgery in children ; Congenital adrenal hyperplasia ; CAH ; Chromosomal anomalies ; Gonadal dysgenesis ; Gonadal dysplasia ; 5α reductase deficiency ; 17β hydroxy steroid dehydrogenase ; 17βHSD ; Androgen insensitivity syndrome ; AIS ; Hypospadias ; Micropenis ; Mixed gonadal dysgenesis ; Ovo-testicular DSD

刊名：Journal of Pediatric Urology

出版年：2016

6.Gonadal dysgenesis in disorders of sex development: Diagnosis and surgical management

作者：K.P. Wolffenbuttel^a ; ^{k.wolffenbuttel@erasmusmc.nl} ; R. Hersmus^b ; H. Stoop^b ; K. Biermann^b ; P. Hoebeke^c ; M. Cools^d ; L.H.J. Looijenga^b

关键词：Gonadal dysgenesis (GD) ; Malignant germ cell tumors ; Germ cell cancer (GCC) ; Disorders of sex development (DSD) ; Surgical management

刊名：Journal of Pediatric Urology

出版年：2016

7.Disorders of sex development

作者：Mark Woodward ; Rebecca Roberts

关键词：CAH ; congenital adrenal hyperplasia ; disorders of sex development ; DSD ; hypospadias ; intersex

刊名：Surgery (Oxford)

出版年：2016

8.Prophylactic Bilateral Gonadectomy for Ovotesticular Disorder of Sex Development in a Patient With Mosaic 45,X/46,X,idic(Y)q11.222 Karyotype

作者：Russell E.N. Becker^a ; ^{rbecker@uchicago.edu" class="auth_mail" title="E-mail the corresponding author} ; Ardavan Akhavan^b

关键词：Ovotesticular disorder ; True hermaphroditism ; Disorder of sex development ; Mosaicism ; Turner mosaic ; Prophylactic gonadectomy

刊名：Urology Case Reports

出版年：2016

9.“It's Part of Me, Not All of Me”: Young Women's Experiences of Receiving a Diagnosis Related to Diverse Sex Development

作者：Tove Lundberg ; MSc¹ ; ^{tove.lundberg@psykologi.uio.no" class="auth_mail" title="E-mail the corresponding author} ; Katrina Roen ; PhD¹ ; Angelica L. Hirschberg ; MD ; PhD² ; Louise Frisén ; MD ; PhD³

关键词：Disorders of sex development ; Androgen insensitivity syndrome ; Diagnosis ; Disclosure ; Gonadal dysgenesis ; Intersex conditions ; Narrative analysis ; Patient-centered care ; Young adult

刊名：Journal of Pediatric and Adolescent Gynecology

出版年：2016

10.Biochemical analyses and molecular modeling explain the functional loss of 17β-hydroxysteroid dehydrogenase 3 mutant G133R in three Tunisian patients with 46, XY Disorders of Sex Development

作者：Roger T. Engeli^a ; ¹ ; Bochra Ben Rhouma^b ; ¹ ; Christoph P. Sager^c ; Maria Tsachaki^a ; Julia Birk^a ; Faiza Fakhfakh^b ; Leila Keskes^b ; Neila Belguith^b ; ^d ; ^{Neila.Belguith@fmsf.rnu.tn" class="auth_mail" title="E-mail the corresponding author} ; Alex Odermatt^a ; ^{alex.odermatt@unibas.ch" class="auth_mail" title="E-mail the corresponding author}

关键词：46 ; XY DSD ; 17β-hydroxysteroid dehydrogenase ; HSD17B3 ; Testosterone ; Mutation ; Structure function relationship ; Male sexual development

刊名：Journal of Steroid Biochemistry and Molecular Biology

出版年：2016

按检索点细分(66)

题名(7)

关键词(7)

文摘(48)

按出版年细分(66)

2027年及以后(6)

2017年(3)

2016年(11)

2015年(3)

2013年(6)

2012年(4)

2011年(6)

2010年(9)

2009年(4)

2008年(7)

2007年(4)

2003年(2)

2000年及以前(1)