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
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
  • [21] CLINICAL AND LABORATORY STUDY OF 2 CAUCASIAN FAMILIES WITH HEREDITARY PYROPOIKILOCYTOSIS AND HEREDITARY ELLIPTOCYTOSIS
    PETERSON, LC
    DAMPIER, C
    COETZER, T
    LAWLER, J
    WHITE, J
    PALEK, J
    AMERICAN JOURNAL OF CLINICAL PATHOLOGY, 1987, 88 (01) : 58 - 65
  • [22] MOLECULAR DETERMINANTS OF CLINICAL EXPRESSION OF HEREDITARY ELLIPTOCYTOSIS AND PYROPOIKILOCYTOSIS
    COETZER, T
    LAWLER, J
    PRCHAL, JT
    PALEK, J
    BLOOD, 1987, 70 (03) : 766 - 772
  • [23] CHARACTERIZATION OF MOLECULAR DEFECTS ASSOCIATED WITH HEREDITARY PYROPOIKILOCYTOSIS (HPP)
    GALLAGHER, PG
    TSE, WT
    ZARKOWSKY, HS
    FORGET, BG
    PEDIATRIC RESEARCH, 1991, 29 (04) : A129 - A129
  • [24] THERMAL-INSTABILITY OF SPECTRIN IN HEREDITARY PYROPOIKILOCYTOSIS (HPP)
    PALEK, J
    LIU, PA
    LIU, SC
    PRCHAL, JT
    CASTLEBERRY, RP
    CLINICAL RESEARCH, 1979, 27 (02): : A303 - A303
  • [25] Defining Hereditary Pyropoikilocytosis (HPP) in the Molecular Diagnostic Era
    Jamalapur, Sri Lakshmi
    Gadgeel, Manisha
    Ozgonenel, Bulent
    Ravindranath, Yaddanapudi
    BLOOD, 2023, 142
  • [26] Neurovascular Manifestations in Hereditary Hemorrhagic Telangiectasia: Imaging Features and Genotype-Phenotype Correlations
    Krings, T.
    Kim, H.
    Power, S.
    Nelson, J.
    Faughnan, M. E.
    Young, W. L.
    terBrugge, K. G.
    AMERICAN JOURNAL OF NEURORADIOLOGY, 2015, 36 (05) : 863 - 870
  • [27] 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
  • [28] Genotype-phenotype relationship in hereditary haemorrhagic telangiectasia
    Letteboer, TGW
    Mager, JJ
    Snijder, RJ
    Koeleman, BPC
    Lindhout, D
    van Amstel, JKP
    Westermann, CJJ
    JOURNAL OF MEDICAL GENETICS, 2006, 43 (04) : 371 - 377
  • [29] Genotype-phenotype correlation in hereditary spastic paraparesis
    McDermott, CJ
    White, K
    Lindsey, JC
    Lusher, ME
    Bushby, KMD
    Shaw, PJ
    JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2001, 70 (02): : 270 - 270
  • [30] 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