Mutations in the DEAH-box RNA Helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome

被引：0

作者：

McElreavey, Ken ^{[1
]}

Jorgensen, Anne ^{[2
]}

Eozenou, Caroline ^{[1
]}

Merel, Tiphanie ^{[1
]}

Bignon-Topalovic, Joelle ^{[1
]}

Tan, Daisy ^{[3
]}

Houzelstein, Denis ^{[1
]}

Buonocore, Federica ^{[4
]}

Warr, Nigel ^{[5
]}

Kay, Raissa ^{[5
]}

Peycelon, Mathieu ^{[6
]}

Siffroi, Jean-Pierre ^{[6
]}

Mazen, Inas ^{[7
]}

Achermann, John ^{[4
]}

Shcherbak, Yuliya ^{[8
]}

Leger, Julienne ^{[9
]}

Sallai, Agnes ^{[10
]}

Carel, Jean-Claude ^{[9
]}

Martinerie, Laetitia ^{[9
]}

Le Ru, Romain ^{[11
]}

Conway, Gerald ^{[4
]}

Mignot, Brigitte ^{[11
]}

Van Maldergem, Lionel ^{[11
]}

Bertalan, Rita ^{[10
]}

Globa, Evgenia ^{[12
]}

Brauner, Raja ^{[13
]}

Jauch, Ralf ^{[3
]}

Nef, Serge ^{[14
]}

Greenfield, Andy ^{[5
]}

Bashamboo, Anu ^{[1
]}

机构：

[1] Inst Pasteur, Paris, France

[2] Rigshosp, Copenhagen, Denmark

[3] Univ Hong Kong, Hong Kong, Peoples R China

[4] UCL GOS Inst Child Hlth, London, England

[5] MRC, Harwell Inst, Didcot, Oxon, England

[6] Sorbonne Univ, Paris, France

[7] Natl Res Ctr, Cairo, Egypt

[8] Natl Hosp OHMATDYT, Kiev, Ukraine

[9] Hosp Robert Debre, Paris, France

[10] Semmelweis Univ, Budapest, Hungary

[11] Univ Franche Comte, Besancon, France

[12] MoH Ukraine, Ukrainian Ctr Endocrine Surg Endocrine Organs & T, Kiev, Ukraine

[13] Fdn Ophtalmol Adolphe Rothschild, Paris, France

[14] Univ Geneva, Geneva, Switzerland

来源：

HORMONE RESEARCH IN PAEDIATRICS | 2019年 / 91卷

关键词：

D O I：

暂无

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

FC10.3

引用

页码：51 / 51

页数：1

共 23 条

[1] Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome
McElreavey, Ken
Jorgensen, Anne
Eozenou, Caroline
Merel, Tiphanie
Bignon-Topalovic, Joelle
Tan, Daisylyn Senna
Houzelstein, Denis
Buonocore, Federica
Warr, Nick
Kay, Raissa G. G.
Peycelon, Matthieu
Siffroi, Jean-Pierre
Mazen, Inas
Achermann, John C.
Shcherbak, Yuliya
Leger, Juliane
Sallai, Agnes
Carel, Jean-Claude
Martinerie, Laetitia
Le Ru, Romain
Conway, Gerard S.
Mignot, Brigitte
Van Maldergem, Lionel
Bertalan, Rita
Globa, Evgenia
Brauner, Raja
Jauch, Ralf
Nef, Serge
Greenfield, Andy
Bashamboo, Anu
GENETICS IN MEDICINE, 2020, 22 (01) : 150 - 159
[2] DHX37: A New Player in 46,XY Gonadal Dysgenesis
Costanzo, M.
Guercio, G.
Touzon, M. S.
Marino, R.
Mattone, C.
Ramirez, P.
Perez Garrido, N.
Lazzati, J. M.
Zaidman, V
Galluzo, L.
Bailez, M.
Berensztein, E.
Ciaccio, M.
Belgorosky, A.
HORMONE RESEARCH IN PAEDIATRICS, 2019, 92 : 29 - 29
[3] Genetic Evidence of the Association of DEAH-Box Helicase 37 Defects With 46,XY Gonadal Dysgenesis Spectrum
da Silva, Thatiana Evilen
Gomes, Nathalia Lisboa
Lerario, Antonio Marcondes
Keegan, Catherine Elizabeth
Nishi, Mirian Yumi
Carvalho, Filomena Marino
Vilain, Eric
Barseghyan, Hayk
Martinez-Aguayo, Alejandro
Forclaz, Maria Veronica
Papazian, Regina
Pedroso de Paula, Leila Cristina
Costa, Eduardo Correa
Carvalho, Luciani Renata
Lima Jorge, Alexander Augusto
Elias, Felipe Martins
Mitchell, Rod
Frade Costa, Elaine Maria
Mendonca, Berenice Bilharinho
Domenice, Sorahia
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2019, 104 (12): : 5923 - 5934
[4] DEAH-Box Helicase 37defects (DXH37) Defects Are a Novel Cause of 46,XY Gonadal Dysgenesis
Gomes, Nathalia
Silva, Thatiana
Lerario, Antonio
Batista, Rafael Loch
Faria Junior, Jose Antonio
Moraes, Daniela
Frade Costa, Elaine Maria
Nishi, Mirian
Carvalho, Luciani Renata
Veronica Forclaz, Maria
Papazian, Regina
Martinez-Aguayo, Alejandro
de Paula, Leila Pedroso
Carvalho, Filomena Marino
Vilain, Erick
Barseghyan, Hayk Barseghyan
Keegan, Catherine
Domenice, Sorahia
Mendonca, Berenice Bilharinho
HORMONE RESEARCH IN PAEDIATRICS, 2018, 90 : 52 - 53
[5] New variant in DHX37 associated to 46,XY gonadal dysgenesis
Dominguez-Riscart, Jesus
Garcia-Zarzuela, Ana
Arellano-Ruiz, Paola
Benito-Sanz, Sara
Delgado-Cotan, Lourdes
Maria Lechuga-Sancho, Alfonso
HORMONE RESEARCH IN PAEDIATRICS, 2023, 96 : 558 - 558
[6] Two novel heterozygous variants in RecA2 domain of the DHX37 cause 46,XY gonadal dysgenesis and testicular regression syndrome
Yang, Hao
Ma, Xiuqi
Tian, Hongjuan
Yuan, Jinna
Wu, Dehua
Dong, Guanping
Liu, Qian
Fu, Junfen
SEXUAL DEVELOPMENT, 2024, 17 (4-6) : 198 - 202
[7] 46,XY DSD due to biallelic DHX37 gene mutations
Eltan, Mehmet
Helvacioglu, Didem
Ates, Esra Arslan
Abali, Zehra Yavas
Turan, Serap
Bereket, Abdullah
Guran, Tulay
HORMONE RESEARCH IN PAEDIATRICS, 2021, 94 (SUPPL 1): : 393 - 394
[8] Expanding DSD Phenotypes Associated with Variants in the DEAH-Box RNA Helicase DHX37
Zidoune, Housna
Martinerie, Laetitia
Tan, Daisylyn S.
Askari, Masomeh
Rezgoune, Djalila
Ladjouze, Asmahane
Boukri, Asma
Benelmadani, Yasmina
Sifi, Karima
Abadi, Noureddine
Satta, Dalila
Rastari, Mandana
Seresht-Ahmadi, Mehrshad
Bignon-Topalovic, Joelle
Mazen, Inas
Leger, Juliane
Simon, Dominique
Brauner, Raja
Totonchi, Mehdi
Jauch, Ralf
Bashamboo, Anu
McElreavey, Kenneth
SEXUAL DEVELOPMENT, 2021, 15 (04) : 244 - 252
[9] DHX37 and NR5A1 Variants Identified in Patients with 46,XY Partial Gonadal Dysgenesis
de Oliveira, Felipe Rodrigues
Mazzola, Tais Nitsch
de Mello, Maricilda Palandi
Francese-Santos, Ana Paula
de Lemos-Marini, Sofia Helena V.
Maciel-Guerra, Andrea Trevas
Hiort, Olaf
Werner, Ralf
Guerra-Junior, Gil
Fabbri-Scallet, Helena
LIFE-BASEL, 2023, 13 (05):
[10] Mutations in the DHX37 Gene Identified by Whole-Exome Sequencing are a Novel Cause of the Embryonic Testicular Regression Syndrome in Four Families with 46,XY DSD
Silva, T.
Lerario, A.
Nishi, M.
Funari, M.
Denes, F.
Costa, E.
Mendonca, B.
Domenice, S.
HORMONE RESEARCH IN PAEDIATRICS, 2015, 84 : 14 - 14

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