Genotype-Phenotype Correlation in Cystinuria

被引：0
|
作者：
Hossain, Mohammad D. [1 ]
Cogal, Andrea G. [1 ]
Porter, Ivan E. [2 ]
Goldfarb, David S. [3 ]
Harris, Peter C. [1 ]
Lieske, John C. [1 ]
机构：
[1] Mayo Clin Minnesota, Rochester, MN USA
[2] Mayo Clin Florida, Jacksonville, FL USA
[3] NYU Langone Hlth, New York, NY USA
来源：
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY | 2022年 / 33卷 / 11期
关键词：
D O I：
暂无
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：
SA-PO568
引用
收藏
页码：761 / 761
页数：1
相关论文
共 50 条
  • [1] Genotype-phenotype correlation in hemophilia A
    Graw, J
    Brackmann, HH
    Oldenburg, J
    Schramm, W
    Schwaab, R
    30TH HEMOPHILIA SYMPOSIUM, 2001, : 13 - 21
  • [2] Genotype-phenotype correlation of porokeratosis
    Hamada, K.
    Shinkuma, S.
    Harada, M.
    Ogawa, K.
    Asada, H.
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2023, 143 (05) : S147 - S147
  • [3] New insights into cystinuria:: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype
    Font-Llitjós, M
    Jiménez-Vidal, M
    Bisceglia, L
    Di Perna, M
    de Sanctis, L
    Rousaud, F
    Zelante, L
    Palacín, M
    Nunes, V
    JOURNAL OF MEDICAL GENETICS, 2005, 42 (01) : 58 - 68
  • [4] Genotype-phenotype correlation in Bethlem myopathy
    Pepe, G
    Lucioli, S
    Vanegas, OC
    Minosse, C
    Giusti, B
    Urtizberea, JA
    Muntoni, F
    Bushby, K
    de Visser, M
    Bönnemann, C
    Sabatelli, P
    Bertini, E
    Merlini, L
    Chu, ML
    NEUROMUSCULAR DISORDERS, 2002, 12 (7-8) : 720 - 721
  • [5] Genotype-phenotype correlation in gemistocytic astrocytomas
    Kösel, S
    Scheithauer, BW
    Graeber, MB
    NEUROSURGERY, 2001, 48 (01) : 187 - 193
  • [6] GENOTYPE-PHENOTYPE CORRELATION IN HEREDITARY SPHEROCYTOSIS
    Olmedo A, Lobo
    Del Orbe Barreto, R. A.
    Pampliega M, Vara
    Del Castillo L, Aranguren
    Varela M, Alonso
    Berganza P, Arana
    Garcia Ruiz, J. C.
    HAEMATOLOGICA, 2021, 106 (10) : 109 - 110
  • [7] Genotype-phenotype correlation in Down syndrome
    Trivino, E
    Sierra, C
    Dolade, M
    Navarro, E
    Brandi, N
    Mira, A
    Cabre, E
    Martin, S
    Pastor, MC
    Crespo, M
    SeresSantamaria, A
    Gimenez, C
    CYTOGENETICS AND CELL GENETICS, 1997, 77 : 22 - 23
  • [8] BIOTINIDASE DEFICIENCY: A GENOTYPE-PHENOTYPE CORRELATION
    Daoud, Ghaleb
    Karam, Pascale
    MOLECULAR GENETICS AND METABOLISM, 2016, 117 (03) : 252 - 253
  • [9] Nephronophthisis: A review of genotype-phenotype correlation
    Luo, Fenglan
    Tao, Yu-Hong
    NEPHROLOGY, 2018, 23 (10) : 904 - 911
  • [10] Genotype-phenotype correlation in hypertrophic cardiomyopathy
    Castella, A.
    Spoladore, R.
    D'amato, R.
    Benedetti, S.
    Di Resta, C.
    Ferrari, M.
    Olivotto, I.
    Camici, P. G.
    EUROPEAN JOURNAL OF HEART FAILURE, 2013, 12 : S169 - S169
12345