Clinical and Molecular Characterization of Fumarate Hydratase (FH) germline carriers in Omani families.

被引：0

作者：

Alsaegh, Abeer ^{[1
]}

Abdulrahim, Reem ^{[1
]}

Van Wyk, Chantel ^{[2
]}

Crous, Ilse ^{[2
]}

Al Kiyumi, Sara ^{[2
]}

Al Balushi, Amira ^{[2
]}

Al Malki, Suad ^{[2
]}

Al Muhairi, Bushra ^{[2
]}

机构：

[1] Sultan Qaboos Comprehens Canc Care & Res Ctr, Genom, Seeb, Oman

[2] Sultan Qaboos Comprehens Canc Care & Res Ctr, Seeb, Oman

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2024年 / 32卷

关键词：

D O I：

暂无

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

P01.106.A

引用

页码：1268 / 1268

页数：1

共 50 条

[31] In deep bioinformatic characterization of a novel fumarate hydratase variant FH c.199T > G; (p.Tyr67Asp) in hereditary leiomyomatosis and renal cell carcinoma
Anisse Chami
Thalía Rodrigues de Souza Zózimo
Thamiris Matias Alves
Carolina Guimarães Ramos Matosinho
Cleydson Santos
Marcela Mattos Simões
Walter Luiz Ribeiro Cabral
Bernardo Ferreira de Paula Ricardo
Agnaldo Lopes da Silva Filho
Maria Raquel Santos Carvalho
Letícia da Conceição Braga
Familial Cancer, 2023, 22 : 481 - 486
[32] Fumarate hydratase-deficient testicular sex cord-stromal tumour (FH-TSCST): proposal for reclassification of a subset of Leydig cell tumours with distinct molecular and clinicopathologic features
Acosta, Andres M.
Colecchia, Maurizio
Berney, Daniel M.
HISTOPATHOLOGY, 2023, 82 (04) : 646 - 647
[33] A Missense Mutation c.1132G > A in Fumarate Hydratase (FH) Leads to Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) Syndrome and Insights into Clinical Management in Uterine Leiomyomata
Shi, Yue
Xu, Yan
Chen, Yiqing
Ren, Xiaojun
Kang, Yu
Wang, Chao
GENES, 2023, 14 (03)
[34] Molecular investigation of hereditary orotic aciduria: cloning of the human UMP synthase gene and characterization of mutations in two Japanese families.
Suchi, M
Mizuno, H
Kawai, Y
Tsuboi, T
Sumi, S
Okajima, K
Hodgson, ME
Ogawa, H
Wada, Y
AMERICAN JOURNAL OF HUMAN GENETICS, 1997, 61 (04) : A262 - A262
[35] Genetic and clinical characterization of a novel FH founder mutation in families with hereditary leiomyomatosis and renal cell cancer syndrome
Ana Beatriz Sánchez-Heras
Estela Dámaso
Adela Castillejo
Mercedes Robledo
Alexandre Teulé
Conxi Lázaro
Rosario Sánchez-Martínez
Ángel Zúñiga
Adrià López-Fernández
Judith Balmaña
Luis Robles
Teresa Ramon y Cajal
M. Isabel Castillejo
Raquel Perea Ibañez
Carmen Martínez Sevila
Andrea Sánchez-Mira
Inés Escandell
Luís Gómez
Pere Berbel
José Luis Soto
Orphanet Journal of Rare Diseases, 19
[36] Genetic and clinical characterization of a novel FH founder mutation in families with hereditary leiomyomatosis and renal cell cancer syndrome
Sanchez-Heras, Ana Beatriz
Damaso, Estela
Castillejo, Adela
Robledo, Mercedes
Teule, Alexandre
Lazaro, Conxi
Sanchez-Martinez, Rosario
Zuniga, Angel
Lopez-Fernandez, Adria
Balmana, Judith
Robles, Luis
Ramon y Cajal, Teresa
Castillejo, M. Isabel
Ibanez, Raquel Perea
Sevila, Carmen Martinez
Sanchez-Mira, Andrea
Escandell, Ines
Gomez, Luis
Berbel, Pere
Soto, Jose Luis
ORPHANET JOURNAL OF RARE DISEASES, 2024, 19 (01)
[37] Clinical and molecular correlates of somatic and germline DDX41 variants in patients and families with myeloid neoplasms
Badar, Talha
Nanaa, Ahmad
Foran, James M.
Viswanatha, David
Al-Kali, Aref
Lasho, Terra
Finke, Christy
Alkhateeb, Hassan B.
He, Rong
Gangat, Naseema
Shah, Mithun
Tefferi, Ayalew
Mangaonkar, Abhishek A.
Litzow, Mark R.
Ongie, Laura J.
Chlon, Timothy
Ferrer, Alejandro
Patnaik, Mrinal M.
HAEMATOLOGICA, 2023, 108 (11) : 3033 - 3043
[38] In deep bioinformatic characterization of a novel fumarate hydratase variant FH c.199T > G; (p.Tyr67Asp) in hereditary leiomyomatosis and renal cell carcinoma
Chami, Anisse
Zozimo, Thalia Rodrigues de Souza
Alves, Thamiris Matias
Matosinho, Carolina Guimaraes Ramos
Santos, Cleydson
Simoes, Marcela Mattos
Cabral, Walter Luiz Ribeiro
Ricardo, Bernardo Ferreira de Paula
da Silva Filho, Agnaldo Lopes
Carvalho, Maria Raquel Santos
Braga, Leticia da Conceicao
FAMILIAL CANCER, 2023, 22 (04) : 481 - 486
[39] Clinical and Immunohistochemical (IHC) Spectrum of Renal Cell Carcinomas (RCCs) with Aberrant Fumarate Hydratase (FH)-Related Studies: Report from the High-Grade Distal Nephron Adenocarcinoma (HDNA) International Consortium
Sirohi, Deepika
MODERN PATHOLOGY, 2016, 29 : 263A - 263A
[40] Clinical and Immunohistochemical (IHC) Spectrum of Renal Cell Carcinomas (RCCs) with Aberrant Fumarate Hydratase (FH)-Related Studies: Report from the High-Grade Distal Nephron Adenocarcinoma (HDNA) International Consortium
Sirohi, Deepika
LABORATORY INVESTIGATION, 2016, 96 : 263A - 263A

← 1 2 3 4 5 →