195 related articles for article (PubMed ID: 30819809)
1. Genotype-phenotype correlations in ataxia telangiectasia patients with
van Os NJH; Chessa L; Weemaes CMR; van Deuren M; Fiévet A; van Gaalen J; Mahlaoui N; Roeleveld N; Schrader C; Schindler D; Taylor AMR; Van de Warrenburg BPC; Dörk T; Willemsen MAAP
J Med Genet; 2019 May; 56(5):308-316. PubMed ID: 30819809
[TBL] [Abstract][Full Text] [Related]
2. Two novel variants in the ATM gene causing ataxia-telangiectasia, including a duplication of 90 kb: Utility of targeted next-generation sequencing in detection of copy number variation.
Martin-Rodriguez S; Calvo-Ferrer A; Ortega-Unanue N; Samaniego-Jimenez L; Sanz-Izquierdo MP; Bernardo-Gonzalez I
Ann Hum Genet; 2019 Jul; 83(4):266-273. PubMed ID: 30888062
[TBL] [Abstract][Full Text] [Related]
3. Functional classification of ATM variants in ataxia-telangiectasia patients.
Fiévet A; Bellanger D; Rieunier G; Dubois d'Enghien C; Sophie J; Calvas P; Carriere JP; Anheim M; Castrioto A; Flabeau O; Degos B; Ewenczyk C; Mahlaoui N; Touzot F; Suarez F; Hully M; Roubertie A; Aladjidi N; Tison F; Antoine-Poirel H; Dahan K; Doummar D; Nougues MC; Ioos C; Rougeot C; Masurel A; Bourjault C; Ginglinger E; Prieur F; Siri A; Bordigoni P; Nguyen K; Philippe N; Bellesme C; Demeocq F; Altuzarra C; Mathieu-Dramard M; Couderc F; Dörk T; Auger N; Parfait B; Abidallah K; Moncoutier V; Collet A; Stoppa-Lyonnet D; Stern MH
Hum Mutat; 2019 Oct; 40(10):1713-1730. PubMed ID: 31050087
[TBL] [Abstract][Full Text] [Related]
4. Childhood-Onset Movement Disorders Can Mask a Primary Immunodeficiency: 6 Cases of Classical Ataxia-Telangiectasia and Variant Forms.
Blanchard-Rohner G; Peirolo A; Coulon L; Korff C; Horvath J; Burkhard PR; Gumy-Pause F; Ranza E; Jandus P; Dibra H; Taylor AMR; Fluss J
Front Immunol; 2022; 13():791522. PubMed ID: 35154108
[TBL] [Abstract][Full Text] [Related]
5. Genotype-phenotype relationships in ataxia-telangiectasia and variants.
Gilad S; Chessa L; Khosravi R; Russell P; Galanty Y; Piane M; Gatti RA; Jorgensen TJ; Shiloh Y; Bar-Shira A
Am J Hum Genet; 1998 Mar; 62(3):551-61. PubMed ID: 9497252
[TBL] [Abstract][Full Text] [Related]
6. Severe reaction to radiotherapy provoked by hypomorphic germline mutations in ATM (ataxia-telangiectasia mutated gene).
Asadollahi R; Britschgi C; Joset P; Oneda B; Schindler D; Meier UR; Rauch A
Mol Genet Genomic Med; 2020 Oct; 8(10):e1409. PubMed ID: 32748564
[TBL] [Abstract][Full Text] [Related]
7. Phenotypic variability in patients with unique double homozygous mutations causing variant ataxia telangiectasia.
Bistritzer J; Mijalovsky A; Nissenkorn A; Flusser H; Levy J; Nahum A; Broides A
Eur J Paediatr Neurol; 2021 May; 32():36-39. PubMed ID: 33743388
[TBL] [Abstract][Full Text] [Related]
8. Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study.
Verhagen MM; Last JI; Hogervorst FB; Smeets DF; Roeleveld N; Verheijen F; Catsman-Berrevoets CE; Wulffraat NM; Cobben JM; Hiel J; Brunt ER; Peeters EA; Gómez Garcia EB; van der Knaap MS; Lincke CR; Laan LA; Tijssen MA; van Rijn MA; Majoor-Krakauer D; Visser M; van 't Veer LJ; Kleijer WJ; van de Warrenburg BP; Warris A; de Groot IJ; de Groot R; Broeks A; Preijers F; Kremer BH; Weemaes CM; Taylor MA; van Deuren M; Willemsen MA
Hum Mutat; 2012 Mar; 33(3):561-71. PubMed ID: 22213089
[TBL] [Abstract][Full Text] [Related]
9. Evidence of pathogenicity for the leaky splice variant c.1066-6T>G in ATM.
Schröder S; Wieland B; Ohlenbusch A; Yigit G; Altmüller J; Boltshauser E; Dörk T; Brockmann K
Am J Med Genet A; 2020 Dec; 182(12):2971-2975. PubMed ID: 32918381
[TBL] [Abstract][Full Text] [Related]
10. Variant ataxia telangiectasia: clinical and molecular findings and evaluation of radiosensitive phenotypes in a patient and relatives.
Claes K; Depuydt J; Taylor AM; Last JI; Baert A; Schietecatte P; Vandersickel V; Poppe B; De Leeneer K; D'Hooghe M; Vral A
Neuromolecular Med; 2013 Sep; 15(3):447-57. PubMed ID: 23632773
[TBL] [Abstract][Full Text] [Related]
11. Twelve novel Atm mutations identified in Chinese ataxia telangiectasia patients.
Huang Y; Yang L; Wang J; Yang F; Xiao Y; Xia R; Yuan X; Yan M
Neuromolecular Med; 2013 Sep; 15(3):536-40. PubMed ID: 23807571
[TBL] [Abstract][Full Text] [Related]
12. Clinical spectrum of ataxia-telangiectasia in adulthood.
Verhagen MM; Abdo WF; Willemsen MA; Hogervorst FB; Smeets DF; Hiel JA; Brunt ER; van Rijn MA; Majoor Krakauer D; Oldenburg RA; Broeks A; Last JI; van't Veer LJ; Tijssen MA; Dubois AM; Kremer HP; Weemaes CM; Taylor AM; van Deuren M
Neurology; 2009 Aug; 73(6):430-7. PubMed ID: 19535770
[TBL] [Abstract][Full Text] [Related]
13. Ataxia-telangiectasia: phenotype/genotype studies of ATM protein expression, mutations, and radiosensitivity.
Becker-Catania SG; Chen G; Hwang MJ; Wang Z; Sun X; Sanal O; Bernatowska-Matuszkiewicz E; Chessa L; Lee EY; Gatti RA
Mol Genet Metab; 2000 Jun; 70(2):122-33. PubMed ID: 10873394
[TBL] [Abstract][Full Text] [Related]
14. Genotype, extrapyramidal features, and severity of variant ataxia-telangiectasia.
Schon K; van Os NJH; Oscroft N; Baxendale H; Scoffings D; Ray J; Suri M; Whitehouse WP; Mehta PR; Everett N; Bottolo L; van de Warrenburg BP; Byrd PJ; Weemaes C; Willemsen MA; Tischkowitz M; Taylor AM; Hensiek AE
Ann Neurol; 2019 Feb; 85(2):170-180. PubMed ID: 30549301
[TBL] [Abstract][Full Text] [Related]
15. Acute lymphoblastic leukemia in early childhood as the presenting sign of ataxia-telangiectasia variant.
Bielorai B; Fisher T; Waldman D; Lerenthal Y; Nissenkorn A; Tohami T; Marek D; Amariglio N; Toren A
Pediatr Hematol Oncol; 2013 Sep; 30(6):574-82. PubMed ID: 23509889
[TBL] [Abstract][Full Text] [Related]
16. [New mutation in ATM gen in patient whith Ataxia Telangiectasia: Clinical case].
Ruiz-Botero F; Rodríguez-Guerrero JT
Rev Chil Pediatr; 2017; 88(4):524-528. PubMed ID: 28898322
[TBL] [Abstract][Full Text] [Related]
17. Telangiectasias in Ataxia Telangiectasia: Clinical significance, role of ATM deficiency and potential pathophysiological mechanisms.
Schoenaker MHD; Van Os NJH; Van der Flier M; Van Deuren M; Seyger MM; Taylor AMR; Weemaes CMR; Willemsen MAAP
Eur J Med Genet; 2018 May; 61(5):284-287. PubMed ID: 29288088
[TBL] [Abstract][Full Text] [Related]
18. Absence of mutations in ATM, the gene responsible for ataxia telangiectasia in patients with cerebellar ataxia.
Hassin-Baer S; Bar-Shira A; Gilad S; Galanty Y; Khosravi R; Lossos A; Giladi N; Weitz R; Ben-Zeev B; Goldhammer Y; Shiloh Y
J Neurol; 1999 Aug; 246(8):716-9. PubMed ID: 10460451
[TBL] [Abstract][Full Text] [Related]
19. Clinical variability in ataxia-telangiectasia.
Lohmann E; Krüger S; Hauser AK; Hanagasi H; Guven G; Erginel-Unaltuna N; Biskup S; Gasser T
J Neurol; 2015 Jul; 262(7):1724-7. PubMed ID: 25957637
[TBL] [Abstract][Full Text] [Related]
20. Novel ATM mutations with ataxia-telangiectasia.
Liu XL; Wang T; Huang XJ; Zhou HY; Luan XH; Shen JY; Chen SD; Cao L
Neurosci Lett; 2016 Jan; 611():112-5. PubMed ID: 26628246
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]