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

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2013年 / 161A卷 / 07期

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

页码：1813 / 1816

页数：4

共 50 条

[31] The impact of missense versus nonsense mutations in arrhythmogenic cardiomyopathy phenotype
Lazzarini, E.
Bauce, B.
Cason, M.
Celeghin, R.
Rigato, I.
Carturan, E.
Rizzo, S.
Thiene, G.
Basso, C.
Pilichou, K.
[J]. CARDIOVASCULAR RESEARCH, 2016, 111 : S84 - S84
[32] Lamin missense mutations-the spectrum of phenotype variability is increasing
Captur, Gabriella
Bilinska, Zofia
Arbustini, Eloisa
[J]. EUROPEAN JOURNAL OF HEART FAILURE, 2018, 20 (10) : 1413 - 1416
[33] Missense mutations:: expansion of the phenotype of laminin α2 deficiency.
Tezak, Z
Devaney, J
Marino, M
Pegoraro, E
Finkel, R
Hoffman, EP
[J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 67 (04) : 405 - 405
[34] Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations
Sébillon, P
Bouchier, C
Bidot, LD
Bonne, G
Ahamed, K
Charron, P
Drouin-Garraud, V
Millaire, A
Desrumeaux, G
Benaïche, A
Charniot, JC
Schwartz, K
Villard, E
Komajda, M
[J]. JOURNAL OF MEDICAL GENETICS, 2003, 40 (08) : 560 - 567
[35] Phenotype of X-linked juvenile retinoschisis (XLRS) associated with RS1 missense mutations
Iannaccone, A
Yashar, BM
Ciccarelli, ML
Bingham, EL
Gasparri, V
Baldi, A
Jablonski, MM
Ayyaggari, R
Sieving, PA
[J]. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2002, 43 : U272 - U272
[36] Expanding the PTEN-associated phenotype: two patients with de novo PTEN mutations and MPS-like phenotype
Scholz, T.
Bierhals, T.
Johannsen, J.
Muschol, N.
Hempel, M.
[J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2020, 28 (SUPPL 1) : 358 - 358
[37] Novel biallelic mutations in POLG gene: large deletion and missense variant associated with PEO
Lin, Yan
Du, Jixiang
Wang, Wei
Ren, Hong
Zhao, Dandan
Liu, Fuchen
Lin, Pengfei
Ji, Kunqian
Zhao, Yuying
Yan, Chuanzhu
[J]. NEUROLOGICAL SCIENCES, 2021, 42 (10) : 4271 - 4280
[38] TSC2 Gene Missense Mutations May be Associated with Non Syndromic Autism
Manwani, Bharti
Chamberlain, Stormy
Twachtman-Bassett, Jennifer
Cornell, Erin
Stanley, Christine
Kalsner, Louisa
[J]. NEUROLOGY, 2016, 86
[39] Missense mutations at ATM gene and cancer risk
Vorechovsky, I
Ortmann, E
Steinmann, D
Dörk, T
[J]. LANCET, 1999, 353 (9160): : 1276 - 1276
[40] Novel missense and frameshift mutations in the adrenoleukodystrophy gene
Ueyama, H
Yamano, T
Shimada, M
Ohkubo, I
[J]. JAPANESE JOURNAL OF HUMAN GENETICS, 1996, 41 (04): : 407 - 411

← 1 2 3 4 5 →