Genotype-Phenotype Correlations in Hereditary Elliptocytosis (HE) and Hereditary Pyropoikilocytosis (HPP)

被引：0
作者：
Niss, Omar [1 ]
Chonat, Satheesh [1 ]
Kerr, Karol [2 ]
McGann, Patrick T. [1 ]
Almansoori, Marya Obaid [3 ]
Quarmyne, Maa-Ohui [4 ]
Zhang, Kejian [5 ]
Kalfa, Theodosia A. [1 ]
机构：
[1] Cincinnati Childrens Hosp Med Ctr, Canc & Blood Dis Inst, Cincinnati, OH 45229 USA
[2] SUNY Upstate Med Univ, Syracuse, NY 13210 USA
[3] Latifa Hosp, Dubai, U Arab Emirates
[4] Emory Univ, Sch Med, Childrens Healthcare Atlanta, Aflac Canc & Blood Disorders Ctr, Atlanta, GA USA
[5] Cincinnati Childrens Hosp Med Ctr, Div Human Genet, Cincinnati, OH 45229 USA
来源：
BLOOD | 2015年 / 126卷 / 23期
关键词：
D O I：
暂无
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
引用
收藏
页数：3
相关论文
共 50 条
  • [31] Recurrent mutations and genotype-phenotype correlations in hereditary factor VII deficiency in Korea
    Kwon, Min-Jung
    Yoo, Ki-Young
    Lee, Ki-O
    Kim, Sun-Hee
    Kim, Hee-Jin
    BLOOD COAGULATION & FIBRINOLYSIS, 2011, 22 (02) : 102 - 105
  • [32] Genotype-phenotype correlation in hereditary multiple exostoses
    Francannet, C
    Cohen-Tanugi, A
    Le Merrer, M
    Munnich, A
    Bonaventure, J
    Legeai-Mallet, L
    JOURNAL OF MEDICAL GENETICS, 2001, 38 (07) : 430 - 434
  • [33] The genotype-phenotype correlation of hereditary multiple exostoses
    Alvarez, C.
    Tredwell, S.
    De Vera, M.
    Hayden, M.
    CLINICAL GENETICS, 2006, 70 (02) : 122 - 130
  • [34] Genes for hereditary sensory and autonomic neuropathies: frequency in a UK series and genotype-phenotype correlations
    Davidson, G.
    Murphy, S. M.
    Polke, J. M.
    Davis, M. B.
    Reilly, M.
    Houlden, H.
    NEUROMUSCULAR DISORDERS, 2010, 20 : S22 - S22
  • [35] Frequency of HFE gene mutations and genotype-phenotype correlations in Swiss patients with hereditary haemochromatosis
    Himmelmann, A
    Bortoluzzi, L
    Jansen, S
    Fehr, J
    SCHWEIZERISCHE MEDIZINISCHE WOCHENSCHRIFT, 2000, 130 (31-32) : 1112 - 1119
  • [36] The international MDSGene initiative: Systematically exploring genotype-phenotype correlations of hereditary movement disorders
    Petkovic, S.
    Schaake, S.
    Huang, J.
    Madoev, H.
    Rasheed, A.
    Lill, C.
    Lohmann, K.
    Klein, C.
    Marras, C.
    MOVEMENT DISORDERS, 2018, 33 : S528 - S529
  • [37] Genotype-phenotype correlations in hereditary medullary thyroid carcinoma:: Oncological features and biochemical properties
    Machens, A
    Gimm, O
    Hinze, R
    Höppner, W
    Boehm, BO
    Dralle, H
    JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2001, 86 (03) : 1104 - 1109
  • [38] Genotype-phenotype correlation in Leber hereditary optic neuropathy
    Tonska, Katarzyna
    Kodron, Agata
    Bartnik, Ewa
    BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS, 2010, 1797 : 47 - 47
  • [39] Genotype-phenotype correlation in hereditary medullary thyroid carcinoma
    Frank-Raue, K
    Heimbach, C
    Rondot, S
    Usadel, KH
    Meng, W
    Varma, C
    Fuchs-Hammoser, R
    Höppner, W
    Schulze, E
    Raue, F
    DEUTSCHE MEDIZINISCHE WOCHENSCHRIFT, 2003, 128 (39) : 1998 - 2002
  • [40] Genotype-phenotype relationship in hereditary amyotrophic lateral sclerosis
    Yamashita, Satoshi
    Ando, Yukio
    TRANSLATIONAL NEURODEGENERATION, 2015, 4
12345