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
收藏
页码：1751 / 1759
页数：10
相关论文
共 50 条
  • [41] Genetic diagnosis in a large UK cohort of patients with inherited neuropathy
    Skorupinska, Mariola
    Laura, Matilde
    Pipis, Menelaos
    Polke, James
    Poh, Roy
    Cortese, Andrea
    Rossor, Alexander
    Reilly, Mary
    JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2018, 23 (04) : 374 - 375
  • [42] MOLECULAR DIAGNOSIS OF GENETIC-DISEASE
    MADDALENA, A
    BICK, DP
    SCHULMAN, JD
    JOURNAL OF REPRODUCTIVE MEDICINE, 1992, 37 (05) : 437 - 444
  • [43] GENETIC-HETEROGENEITY IN MEDULLARY CYSTIC KIDNEY-DISEASE
    ANTIGNAC, C
    KIDNEY INTERNATIONAL, 1995, 47 (03) : 730 - 731
  • [44] The spectrum of cystic kidney disease in adulthood: Differential diagnosis and complications
    Peces, R
    Costero, O
    NEFROLOGIA, 2003, 23 (03): : 260 - 265
  • [45] Molecular spectrum of genetic anomalies in pediatric patients with early onset of renal cystic disease
    Bracciama, Valeria
    Bucchino, Laura
    Carli, Diana
    Solito, Arianna
    Faini, Angelo Corso
    Kalantari, Silvia
    del Prever, Giulia Margherita Brach
    Mioli, Fiorenza
    Scolari, Caterina
    Amoroso, Antonio
    Vaisitti, Tiziana
    Peruzzi, Licia
    Deaglio, Silvia
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 390 - 391
  • [46] MOLECULAR SPECTRUMOF GENETIC ANOMALIES IN PEDIATRIC PATIENTS WITH EARLY ONSET OF RENAL CYSTIC DISEASE
    Bracciama, Valeria
    Bucchino, Laura
    Carli, Diana
    Solito, Arianna
    Faini, Angelo Corso
    Kalantari, Silvia
    del Prever, Giulia Margherita Brach
    Amoroso, Antonio
    Vaisitti, Tiziana
    Peruzzi, Licia
    Deaglio, Silvia
    NEPHROLOGY DIALYSIS TRANSPLANTATION, 2023, 38 : I237 - I237
  • [47] Molecular diagnosis of inheritable neuromuscular disorders. Part I: Genetic determinants of inherited disease and their laboratory detection
    Greenberg, SA
    Walsh, RJ
    MUSCLE & NERVE, 2005, 31 (04) : 418 - 430
  • [48] Molecular genetic analysis in patients with inherited factor V deficiency
    Pavlova, A.
    Delev, D.
    Seifried, E.
    Oldenburg, J.
    36TH HEMOPHILIA SYMPOSIUM, 2007, : 217 - +
  • [49] Molecular genetic analysis in patients with inherited factor V deficiency
    Delev, D.
    Pavlova, A.
    Judith, J.
    Schmitt, A.
    Seifried, E.
    Oldenburg, J.
    HAEMOPHILIA, 2008, 14 : 66 - 66
  • [50] Perinatal differential diagnosis of cystic kidney disease and urinary tract obstruction:: anatomic pathologic, ultrasonographic and genetic findings
    Friedmann, W
    Vogel, M
    Dimer, JS
    Luttkus, A
    Büscher, U
    Dudenhausen, JW
    EUROPEAN JOURNAL OF OBSTETRICS GYNECOLOGY AND REPRODUCTIVE BIOLOGY, 2000, 89 (02): : 127 - 133
12345