Clinical significance of digenic inheritance in Alport Syndrome

被引：0
|
作者：
Aksenova, Marina [1 ]
Shagam, Lev [1 ]
机构：
[1] Pirogov Russian Natl Res Med Univ, Genet, Veltischev Res Pediat Clin Inst, Moscow, Russia
来源：
PEDIATRIC NEPHROLOGY | 2023年 / 38卷 / 07期
关键词：
D O I：
暂无
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
P3-510
引用
收藏
页码：2442 / 2443
页数：2
相关论文
共 50 条
  • [21] Digenic inheritance and Mendelian disease
    Lupski, James R.
    [J]. NATURE GENETICS, 2012, 44 (12) : 1291 - +
  • [22] Evidence for digenic inheritance of atypical hemolytic uremic syndrome in a Spanish pedigree
    de Jorge, EG
    Esparza-Gordillo, J
    Garrido, CA
    Berges, LC
    López-Trascasa, M
    Sánchez-Corral, P
    de Córdoba, SR
    [J]. MOLECULAR IMMUNOLOGY, 2006, 43 (1-2) : 158 - 159
  • [23] ALPORT SYNDROME - CLINICAL REPORT
    VARESE, LA
    ANTONIOLA, P
    BARBERO, S
    [J]. MINERVA PEDIATRICA, 1978, 30 (22) : 1843 - 1852
  • [24] ENAM mutations and digenic inheritance
    Zhang, Hong
    Hu, Yuanyuan
    Seymen, Figen
    Koruyucu, Mine
    Kasimoglu, Yelda
    Wang, Shih-Kai
    Wright, John Timothy
    Havel, Michael W.
    Zhang, Chuhua
    Kim, Jung-Wook
    Simmer, James R.
    Hu, Jan C-C
    [J]. MOLECULAR GENETICS & GENOMIC MEDICINE, 2019, 7 (10):
  • [25] Digenic inheritance in medical genetics
    Schaeffer, Alejandro A.
    [J]. JOURNAL OF MEDICAL GENETICS, 2013, 50 (10) : 641 - 652
  • [26] Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?
    Reardon, W
    Smith, A
    Honour, JW
    Hindmarsh, P
    Das, D
    Rumsby, G
    Nelson, I
    Malcolm, S
    Adès, L
    Sillence, D
    Kumar, D
    DeLozier-Blanchet, C
    McKee, S
    Kelly, T
    McKeehan, WL
    Baraitser, M
    Winter, RM
    [J]. JOURNAL OF MEDICAL GENETICS, 2000, 37 (01) : 26 - 32
  • [27] CORRELATION OF THE PHENOTYPE AND THE MODE OF INHERITANCE IN ALPORT SYNDROME USING AN ALPORT-SPECIFIC ANTIBODY PROBE
    PARK, HW
    CHEONG, HI
    HA, IS
    CHOI, Y
    [J]. KIDNEY INTERNATIONAL, 1993, 44 (05) : 1183 - 1183
  • [28] Evidence Suggesting Digenic Inheritance of Waardenburg Syndrome Type II With Ocular Albinism
    Chiang, Pei-Wen
    Spector, Elaine
    McGregor, Tracy L.
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2009, 149A (12) : 2739 - 2744
  • [29] Congenital macrothrombocytopaenia and leucocyte inclusions without evidence of autosomal dominant inheritance or clinical features of Alport Syndrome
    Dean, J
    Christensen, H
    Butchart, S
    Zipursky, A
    Blanchette, V
    [J]. THROMBOSIS AND HAEMOSTASIS, 1997, : O1574 - O1574
  • [30] Digenic inheritance of subclinical variants in Noonan Syndrome patients: an alternative pathogenic model?
    Ferrari, Luca
    Mangano, Eleonora
    Bonati, Maria Teresa
    Monterosso, Ilaria
    Capitanio, Daniele
    Chiappori, Federica
    Brambilla, Ilaria
    Gelfi, Cecilia
    Battaglia, Cristina
    Bordoni, Roberta
    Riva, Paola
    [J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2020, 28 (10) : 1432 - 1445
12345