Expanding the phenotype associated with missense mutations of the ARX gene

被引:4
|
作者
Charzewska, Agnieszka [1 ]
Nawara, Magdalena [1 ]
Jakubiuk-Tomaszuk, Anna [1 ,2 ]
Obersztyn, Ewa [1 ]
Hoffman-Zacharska, Dorota [1 ,3 ]
Elert, Ewelina [1 ,3 ]
Jurek, Marta [1 ]
Bartnik, Magdalena [1 ]
Poznanski, Jaroslaw [4 ]
Bal, Jerzy [1 ]
机构
[1] Inst Mother & Child Hlth, Dept Med Genet, Kasprzaka,17 A, PL-01211 Warsaw, Poland
[2] Med Univ Bialystok, Dept Pediat Neurol & Rehabil, Bialystok, Poland
[3] Univ Warsaw, Inst Genet & Biotechnol, Fac Biol, Warsaw, Poland
[4] Polish Acad Sci, Inst Biochem & Biophys, Warsaw, Poland
关键词
DISORDERS;
D O I
10.1002/ajmg.a.36003
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:1813 / 1816
页数:4
相关论文
共 50 条
  • [1] ARX gene mutations
    Fernandez-Fernandez, M. A.
    Rufo-Campos, M.
    Madruga-Garrido, M.
    Blanco-Martinez, B.
    Candau Fernandez-Mensaque, R.
    [J]. REVISTA DE NEUROLOGIA, 2009, 48 (10) : 560 - 560
  • [2] Expanding the Clinical Phenotype of Ataxia Associated with PMPCA Mutations
    Sanesteban Beceiro, E.
    Fernandez Revuelta, A.
    Garcia-Ramos, R.
    Lopez Valdes, E.
    Fenollar Cortes, M.
    Alonso Frech, F.
    [J]. MOVEMENT DISORDERS, 2023, 38 : S331 - S332
  • [3] Male-female phenotype correlation and dissociation related to mutations in the ARX gene
    Li, Chumei Li
    [J]. JOURNAL OF MEDICAL GENETICS, 2024,
  • [4] Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation
    Kato, M
    Das, S
    Petras, K
    Kitamura, K
    Morohashi, KI
    Abuelo, DN
    Barr, M
    Bonneau, D
    Brady, AF
    Carpenter, NJ
    Cipero, KL
    Frisone, F
    Fukuda, T
    Guerrini, R
    Iida, E
    Itoh, M
    Lewanda, AF
    Nanba, Y
    Oka, A
    Proud, VK
    Saugier-Veber, P
    Schelley, SL
    Selicorni, A
    Shaner, R
    Silengo, M
    Stewart, F
    Sugiyama, N
    Toyama, J
    Toutain, A
    Vargas, AL
    Yanazawa, M
    Zackai, EH
    Dobyns, WB
    [J]. HUMAN MUTATION, 2004, 23 (02) : 147 - 159
  • [5] Expanding the phenotype of GMPPB mutations
    Cabrera-Serrano, Macarena
    Ghaoui, Roula
    Ravenscroft, Gianina
    Johnsen, Russell D.
    Davis, Mark R.
    Corbett, Alastair
    Reddel, Stephen
    Sue, Carolyn M.
    Liang, Christina
    Waddell, Leigh B.
    Kaur, Simranpreet
    Lek, Monkol
    North, Kathryn N.
    MacArthur, Daniel G.
    Lamont, Phillipa J.
    Clarke, Nigel F.
    Laing, Nigel G.
    [J]. BRAIN, 2015, 138 : 836 - 844
  • [6] A Novel Homozygous Missense Mutation in the YARS Gene: Expanding the Phenotype of YARS Multisystem Disease
    Zeiad, Rawah K. H. M.
    Ferren, Edwin C.
    Young, Denise D.
    De Lancy, Shanelle J.
    Dedousis, Demitrios
    Schillaci, Lori-Anne
    Redline, Raymond W.
    Saab, Shahrazad T.
    Crespo, Maricruz
    Bhatti, Tricia R.
    Ackermann, Amanda M.
    Bedoyan, Jirair K.
    Wood, Jamie R.
    [J]. JOURNAL OF THE ENDOCRINE SOCIETY, 2021, 5 (02)
  • [7] Delineating the expanding phenotype associated with SCAPER gene mutation
    Fasham, James
    Arno, Gavin
    Lin, Siying
    Xu, Mingchu
    Carss, Keren J.
    Hull, Sarah
    Lane, Amelia
    Robson, Anthony G.
    Wenger, Olivia
    Self, Jay E.
    Harlalka, Gaurav V.
    Salter, Claire G.
    Schema, Lynn
    Moss, Timothy J.
    Cheetham, Michael E.
    Moore, Anthony T.
    Raymond, F. Lucy
    Chen, Rui
    Baple, Emma L.
    Webster, Andrew R.
    Crosby, Andrew H.
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2019, 179 (08) : 1665 - 1671
  • [8] The clinical phenotype of two missense mutations in the presenilin I gene in Japanese patients
    Ikeda, M
    Sharma, V
    Sumi, M
    Rogaeva, EA
    Poorkaj, P
    Sherrington, R
    Nee, L
    Tsuda, T
    Oda, N
    Watanabe, M
    Aoki, M
    Shoji, M
    Abe, K
    Itoyama, Y
    Hirai, S
    Schellenberg, GD
    Bird, TD
    StGeorgeHyslop, PH
    [J]. ANNALS OF NEUROLOGY, 1996, 40 (06) : 912 - 917
  • [9] Missense mutations in a conserved region of the acid α-glucosidase gene:: genotype-phenotype.
    Huie, ML
    Tsujino, S
    Beesley, C
    Bonthron, D
    Engel, A
    Shanske, S
    DiMauro, S
    Hirschhorn, R
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 1997, 61 (04) : A252 - A252
  • [10] Expanding the neurodevelopmental phenotype associated with HK1 de novo heterozygous missense variants
    Poole, Rebecca L.
    Badonyi, Mihaly
    Cozens, Alison
    Foulds, Nicola
    Marsh, Joseph A.
    Rahman, Shamima
    Ross, Alison
    Schooley, Joanna
    Straub, Volker
    Quigley, Alan J.
    FitzPatrick, David
    Lampe, Anne
    [J]. EUROPEAN JOURNAL OF MEDICAL GENETICS, 2023, 66 (03)