IGHMBP2-related Disease with Genotype-Phenotype Correlation

被引：0
|
作者：
Tkemaladze, Tinatin [1 ,2 ]
Abashishvili, Luka [1 ]
Chikvinidze, Gocha [3 ]
Kvaratskhelia, Eka [1 ]
Abzianidze, Elene [1 ]
机构：
[1] Tbilisi State Med Univ, Dept Mol & Med Genet, Tbilisi, Georgia
[2] Tbilisi State Med Univ, Givi Zhvania Acad Pediat Clin, Dept Pediat, Tbilisi, Georgia
[3] Tsitsishvili Childrens New Clin, Dept Child Neurol, Tbilisi, Georgia
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2023年 / 31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：
EP11.003
引用
收藏
页码：210 / 210
页数：1
相关论文
共 50 条
  • [21] Genotype-phenotype correlation in vanishing white matter disease
    van der Lei, H. D. W.
    van Berkel, C. G. M.
    van Wieringen, W. N.
    Brenner, C.
    Feigenbaum, A.
    Mercimek-Mahmutoglu, S.
    Philippart, M.
    Tatli, B.
    Wassmer, E.
    Scheper, G. C.
    van der Knaap, M. S.
    NEUROLOGY, 2010, 75 (17) : 1555 - 1559
  • [22] HLA and risk of celiac disease: Genotype-phenotype correlation
    Fernandez De Basoa, M. C. MartIn
    Concepcion Masip, M. T.
    Almeida Gonzalez, D.
    De Castro Cordova, J.
    Rodriguez Magdalena, C.
    Martinez Alvarez, M. J.
    Hernandez Cubas, M. J.
    Avila Martin, A.
    CLINICA CHIMICA ACTA, 2019, 493 : S102 - S103
  • [23] ARHGEF9 disease Phenotype clarification and genotype-phenotype correlation
    Alber, Michael
    Kalscheuer, Vera M.
    Marco, Elysa
    Sherr, Elliott
    Lesca, Gaetan
    Till, Marianne
    Gradek, Gyri
    Wiesener, Antje
    Korenke, Christoph
    Mercier, Sandra
    Becker, Felicitas
    Yamamoto, Toshiyuki
    Scherer, Stephen W.
    Marshall, Christian R.
    Walker, Susan
    Dutta, Usha R.
    Dalal, Ashwin B.
    Suckow, Vanessa
    Jamali, Payman
    Kahrizi, Kimia
    Najmabadi, Hossein
    Minassian, Berge A.
    NEUROLOGY-GENETICS, 2017, 3 (03)
  • [24] Genotype-phenotype correlation in MYH9-related thrombocytopenia
    Dong, F
    Li, SF
    Pujol-Moix, N
    Luban, NLC
    Shin, SW
    Seo, JH
    Ruiz-Saez, A
    Demeter, J
    Langdon, S
    Kelley, MJ
    BRITISH JOURNAL OF HAEMATOLOGY, 2005, 130 (04) : 620 - 627
  • [25] Darier disease - novel mutations in ATP2A2 and genotype-phenotype correlation
    Ringpfeil, F
    Raus, A
    DiGiovanna, JJ
    Korge, B
    Harth, W
    Mazzanti, C
    Uitto, J
    Bale, SJ
    Richard, G
    EXPERIMENTAL DERMATOLOGY, 2001, 10 (01) : 19 - 27
  • [26] Genotype-phenotype correlation in Italian children with Wilson's disease
    Nicastro, Emanuele
    Loudianos, Georgios
    Zancan, Lucia
    D'Antiga, Lorenzo
    Maggiore, Giuseppe
    Marcellini, Matilde
    Barbera, Cristiana
    Marazzi, Maria Grazia
    Francavilla, Ruggiero
    Pastore, Maria
    Vajro, Pietro
    D'Ambrosi, Mariangela
    Vegnente, Angela
    Ranucci, Giusy
    Iorio, Raffaele
    JOURNAL OF HEPATOLOGY, 2009, 50 (03) : 555 - 561
  • [27] Iranian patients with hemoglobin H disease: genotype-phenotype correlation
    Paridar, Mostafa
    Azizi, Ebrahim
    Keikhaei, Bijan
    Takhviji, Vahideh
    Baluchi, Iman
    Khosravi, Abbas
    MOLECULAR BIOLOGY REPORTS, 2019, 46 (05) : 5041 - 5048
  • [28] Griscelli disease:: Genotype-phenotype correlation in an array of clinical heterogeneity
    Sanal, O
    Ersoy, F
    Tezcan, I
    Metin, A
    Yel, L
    Ménasché, G
    Gürgey, A
    Berkel, I
    de Saint Basile, G
    JOURNAL OF CLINICAL IMMUNOLOGY, 2002, 22 (04) : 237 - 243
  • [29] Genotype-phenotype correlation of glycogen storage disease type IV
    Taylor, Anne
    Carroll, Jennifer
    Jalkanen, Aimee
    Mori, Mari
    GENETICS IN MEDICINE, 2022, 24 (03) : S23 - S23
  • [30] Serrated Lesions In Inflammatory Bowel Disease: Genotype-Phenotype Correlation
    Brcic, Iva
    Dawson, Heather
    Groechenig, Hans Peter
    Hoegenauer, Christoph
    Kashofer, Karl
    Langner, Cord
    MODERN PATHOLOGY, 2019, 32
12345