Molecular spectrum of genetic anomalies in pediatric patients with early onset of renal cystic disease

被引：0
|
作者：
Bracciama, Valeria [1 ,2 ]
Bucchino, Laura [3 ]
Carli, Diana [1 ,2 ]
Solito, Arianna [3 ]
Faini, Angelo Corso [1 ,2 ]
Kalantari, Silvia [1 ,2 ]
del Prever, Giulia Margherita Brach [1 ,2 ]
Mioli, Fiorenza [1 ,2 ]
Scolari, Caterina [4 ]
Amoroso, Antonio [1 ,2 ]
Vaisitti, Tiziana [1 ,2 ]
Peruzzi, Licia [3 ]
Deaglio, Silvia [1 ,2 ]
机构：
[1] AOU Citta Salute Sci, Transplant Reg Ctr Piedmont Immunogenet & Transpl, Turin, Italy
[2] Univ Turin, Dept Med Sci, Turin, Italy
[3] Regina Margherita Childrens Hosp, Nephrol Dialysis & Transplantat, Turin, Italy
[4] Turin Univ, Turin, Italy
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：
P04.023.C
引用
收藏
页码：390 / 391
页数：2
相关论文
共 50 条
  • [11] A molecular genetic study of the VCFS region in early onset psychosis patients
    Ivanov, D
    Kirov, G
    Thapar, A
    O'Donovan, M
    Owen, M
    AMERICAN JOURNAL OF MEDICAL GENETICS, 2002, 114 (07): : 814 - 814
  • [12] Molecular Genetic Diagnosis of Omani Patients With Inherited Cystic Kidney Disease
    Al Alawi, Intisar
    Al Salmi, Issa
    Al Rahbi, Fatma
    Al Riyami, Mohamed
    Al Kalbani, Naifain
    Al Ghaithi, Badria
    Al Mawali, Adhra
    Sayer, John A.
    KIDNEY INTERNATIONAL REPORTS, 2019, 4 (12): : 1751 - 1759
  • [13] The genetic basis of pediatric renal disease
    Goodyer, P
    Kashtan, C
    SEMINARS IN NEPHROLOGY, 1998, 18 (03) : 244 - 255
  • [14] Outcomes in patients with early-onset fetal growth restriction without fetal or genetic anomalies
    Gupta, Simi
    Naert, Mackenzie
    Lam-Rachlin, Jennifer
    Monteagudo, Ana
    Rebarber, Andrei
    Saltzman, Daniel
    Fox, Nathan S.
    JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE, 2019, 32 (16): : 2662 - 2666
  • [15] Clinical and Molecular Disease Spectrum and Outcomes in Patients with Infantile-Onset Pompe Disease
    Gupta, Neerja
    Kazi, Zoheb B.
    Nampoothiri, Sheela
    Jagdeesh, Sujatha
    Kabra, Madhulika
    Puri, Ratna Dua
    Muranjan, Mamta
    Kalaivani, Mani
    Rehder, Catherine
    Bali, Deeksha
    Verma, Ishwar C.
    Kishnani, Priya S.
    JOURNAL OF PEDIATRICS, 2020, 216 : 44 - +
  • [16] MOLECULAR GENETIC-ANALYSIS OF EARLY ONSET FAMILIAL ALZHEIMERS-DISEASE
    VAN BROECKHOVEN, CL
    NEUROBIOLOGY OF AGING, 1989, 10 (05) : 437 - 438
  • [17] Genetic spectrum of Saudi Arabian patients with antenatal cystic kidney disease and ciliopathy phenotypes using a targeted renal gene panel
    Al-Hamed, Mohamed H.
    Kurdi, Wesam
    Alsahan, Nada
    Alabdullah, Zainab
    Abudraz, Rania
    Tulbah, Maha
    Alnemer, Maha
    Khan, Rubina
    Al-Jurayb, Haya
    Alahmed, Ahmed
    Tahir, Asma I.
    Khalil, Dania
    Edwards, Noel
    Al Abdulaziz, Basma
    Binhumaid, Faisal S.
    Majid, Salma
    Faquih, Tariq
    El-Kalioby, Mohamed
    Abouelhoda, Mohamed
    Altassan, Nada
    Monies, Dorota
    Meyer, Brian
    Sayer, John A.
    Albaqumi, Mamdouh
    JOURNAL OF MEDICAL GENETICS, 2016, 53 (05) : 338 - 347
  • [18] Genetic predisposition to early onset of coronary artery disease in Russian patients
    Zateyshchikov, D. A.
    Dankovtseva, E. N.
    Nikitin, A. G.
    Koroleva, O. S.
    Brovkin, A. N.
    Yakunina, N. Yu.
    Chudakova, D. A.
    Nosikov, V. V.
    Sidorenko, B. A.
    ATHEROSCLEROSIS SUPPLEMENTS, 2006, 7 (03) : 131 - 131
  • [19] Genetic Polymorphisms Associated with Cyclosporine Disposition in Pediatric Patients with Renal Disease
    Moriya, Yuka
    Nishikawa, Mika
    Nakamura, Tsutomu
    Okamura, Noboru
    Sakaeda, Toshiyuki
    YAKUGAKU ZASSHI-JOURNAL OF THE PHARMACEUTICAL SOCIETY OF JAPAN, 2008, 128 : 84 - 84
  • [20] Genetics and molecular pathology of cystic renal disease
    Sandford, R
    Boulter, C
    EXPERIMENTAL NEPHROLOGY, 1996, 4 (02): : 127 - 134
12345