Molecular Genetic Diagnosis of Omani Patients With Inherited Cystic Kidney Disease

被引：6

作者：

Al Alawi, Intisar ^{[1
,2
]}

Al Salmi, Issa ^{[3
]}

Al Rahbi, Fatma ^{[3
]}

Al Riyami, Mohamed ^{[4
]}

Al Kalbani, Naifain ^{[4
]}

Al Ghaithi, Badria ^{[4
]}

Al Mawali, Adhra ^{[5
]}

Sayer, John A. ^{[1
,6
,7
]}

机构：

[1] Univ Newcastle, Int Ctr Life, Inst Genet Med, Newcastle Upon Tyne, Tyne & Wear, England

[2] Minist Hlth, Natl Genet Ctr, Muscat, Oman

[3] Royal Hosp, Renal Med Dept, Minist Hlth, Muscat, Oman

[4] Royal Hosp, Dept Child Hlth, Pediat Nephrol Unit, Minist Hlth, Muscat, Oman

[5] Minist Hlth, Ctr Studies & Res, Muscat, Oman

[6] Newcastle Upon Tyne Hosp Natl Hlth Serv Trust, Renal Serv, Newcastle Upon Tyne, Tyne & Wear, England

[7] Natl Inst Hlth Res Newcastle Biomed Res Ctr, Newcastle Upon Tyne, Tyne & Wear, England

来源：

KIDNEY INTERNATIONAL REPORTS | 2019年 / 4卷 / 12期

关键词：

MUTATIONS; IDENTIFICATION; PROTEIN; ENCODES;

D O I：

10.1016/j.ekir.2019.08.012

中图分类号：

R5 [内科学]; R69 [泌尿科学（泌尿生殖系疾病）];

学科分类号：

1002 ; 100201 ;

摘要：

[No abstract available]

引用

页码：1751 / 1759

页数：10

共 50 条

[21] Clinical and molecular diagnosis in inherited kidney diseases: Three examples
Grunfeld, JP
Lesavre, P
Richard, S
HEREDITARY KIDNEY DISEASES, 1997, 122 : 124 - 128
[22] Diagnosis and Management of Acquired Cystic Kidney Disease and Renal Tumors in ESRD Patients
Rahbari-Oskoui, Frederic
O'Neill, William Charles
SEMINARS IN DIALYSIS, 2017, 30 (04) : 373 - 379
[23] The genetic basis of cystic fibrosis.: An example of inherited disease in pneumology
Tümmler, B
Stuhrmann, M
INTERNIST, 2003, 44 : S7 - +
[24] SONOGRAPHIC, CLINICAL AND GENETIC-ASPECTS OF PRENATAL-DIAGNOSIS OF CYSTIC KIDNEY-DISEASE
REUSS, A
WLADIMIROFF, JW
NIERMEYER, MF
ULTRASOUND IN MEDICINE AND BIOLOGY, 1991, 17 (07): : 687 - 694
[25] Molecular genetic methods in research and diagnosis of inherited eye disorders
Finckh, U
Gal, A
SOE '97 - XI CONGRESS OF THE EUROPEAN SOCIETY OF OPHTHALMOLOGY, VOLS 1 AND 2, 1997, : 1349 - 1354
[26] MOLECULAR GENETIC APPROACHES TO THE ANALYSIS OF INHERITED NEUROLOGICAL DISEASE
COOPER, DN
ANNALS OF CLINICAL RESEARCH, 1986, 18 (5-6): : 264 - 270
[27] Inherited disease in dogs: molecular genetics applied to diagnosis
Patarnello, Tomaso
Bargelloni, Luca
Castagnaro, Massimo
VETERINARIA, 2010, 24 (02): : 7 - 12
[28] Prenatal diagnosis of autosomal recessive polycystic kidney disease by molecular genetic analysis
Jang, Dong Gyu
Chae, Hyojin
Shin, Jong Chul
Park, In Yang
Kim, Myungshin
Kim, Yonggoo
JOURNAL OF OBSTETRICS AND GYNAECOLOGY RESEARCH, 2011, 37 (11) : 1744 - 1747
[29] Limitations of molecular genetic studies in the diagnosis of cystic fibrosis
Vaglio, Alicia
Pizzo, Lucilla
Quadrelli, Andrea
Guecaimburu, Rosario
Pagano, Sinthia
Quadrelli, Roberto
REVISTA MEDICA DEL URUGUAY, 2011, 27 (03): : 129 - 137
[30] Diagnosis, Pathogenesis, and Treatment Prospects in Cystic Kidney Disease
Carsten Bergmann
Valeska Frank
Fabian Küpper
Dirk Kamitz
Jens Hanten
Peter Berges
Silke Mager
Markus Moser
Jutta Kirfel
Reinhard Büttner
Jan Senderek
Klaus Zerres
Molecular Diagnosis & Therapy, 2006, 10 : 163 - 174

← 1 2 3 4 5 →