116 related articles for article (PubMed ID: 10416970)
1. Molecular prenatal diagnosis of ataxia telangiectasia heterozygosity by direct mutational assays.
Chessa L; Piane M; Prudente S; Carducci C; Mazzilli MC; Pachti A; Negrini M; Narducci MG; Russo G; Frati L
Prenat Diagn; 1999 Jun; 19(6):542-5. PubMed ID: 10416970
[TBL] [Abstract][Full Text] [Related]
2. Rapid molecular prenatal diagnosis of ataxia-telangiectasia by direct mutational analysis.
Mancebo E; Bernardo I; Castro MJ; Fernández-Martinez FJ; Barreiro E; De-Pablos P; Marin MJ; Cortezon S; Paz-Artal E; Allende LM
Prenat Diagn; 2007 Sep; 27(9):861-4. PubMed ID: 17600866
[TBL] [Abstract][Full Text] [Related]
3. Use of D11S2179 and D11S1343 as markers for prenatal diagnosis of ataxia telangiectasia in Iranian patients.
Bayat B; Houshmand M; Sanati MH; Moin M; Panahi MS; Aleyasin SA; Isaian A; Farhoodi A
Arch Med Res; 2007 Oct; 38(7):803-5. PubMed ID: 17845903
[TBL] [Abstract][Full Text] [Related]
4. First-trimester prenatal diagnosis of the Nijmegen breakage syndrome and ataxia telangiectasia using an assay of radioresistant DNA synthesis.
Jaspers NG; van der Kraan M; Linssen PC; Maçek M; Seemanová E; Kleijer WJ
Prenat Diagn; 1990 Oct; 10(10):667-74. PubMed ID: 2274491
[TBL] [Abstract][Full Text] [Related]
5. Clinical diagnosis and genetic counseling of atypical ataxia‑telangiectasia in a Chinese family.
Cao J; Shen R; Zhang W; Mao B; Shi Q; Zhou R; Liu Z; Zeng B; Chen X; Zhang C; Lu M; Han P; Wu J; Zhou A; Tan X
Mol Med Rep; 2019 May; 19(5):3441-3448. PubMed ID: 30816533
[TBL] [Abstract][Full Text] [Related]
6. Prenatal diagnosis of a lethal form of Netherton syndrome by SPINK5 mutation analysis.
Bitoun E; Bodemer C; Amiel J; de Prost Y; Stoll C; Calvas P; Hovnanian A
Prenat Diagn; 2002 Feb; 22(2):121-6. PubMed ID: 11857617
[TBL] [Abstract][Full Text] [Related]
7. Genetic aspects of ataxia-telangiectasia.
Swift M
Immunodefic Rev; 1990; 2(1):67-81. PubMed ID: 2196911
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. p53 centrosomal localization diagnoses ataxia-telangiectasia homozygotes and heterozygotes.
Prodosmo A; De Amicis A; Nisticò C; Gabriele M; Di Rocco G; Monteonofrio L; Piane M; Cundari E; Chessa L; Soddu S
J Clin Invest; 2013 Mar; 123(3):1335-42. PubMed ID: 23454770
[TBL] [Abstract][Full Text] [Related]
10. IVS10-6T>G, an ancient ATM germline mutation linked with breast cancer.
Broeks A; Urbanus JH; de Knijff P; Devilee P; Nicke M; Klöpper K; Dörk T; Floore AN; van't Veer LJ
Hum Mutat; 2003 May; 21(5):521-8. PubMed ID: 12673794
[TBL] [Abstract][Full Text] [Related]
11. Prenatal diagnosis of ataxia-telangiectasia and Nijmegen Breakage syndrome by the assay of radioresistant DNA synthesis.
Kleijer WJ; van der Kraan M; Los FJ; Jaspers NG
Int J Radiat Biol; 1994 Dec; 66(6 Suppl):S167-74. PubMed ID: 7836844
[TBL] [Abstract][Full Text] [Related]
12. Refractory T-cell/histiocyte-rich large B-cell lymphoma in a patient with ataxia-telangiectasia caused by novel compound heterozygous variants in ATM.
Sato D; Moriya K; Nakano T; Miyagawa C; Katayama S; Niizuma H; Sasahara Y; Kure S
Int J Hematol; 2021 Dec; 114(6):735-741. PubMed ID: 34424493
[TBL] [Abstract][Full Text] [Related]
13. [Rapid genetic prenatal diagnosis for achondroplasia].
Zhu HY; Yang Y; Li J; Ru T; Hu YL
Zhonghua Fu Chan Ke Za Zhi; 2008 Nov; 43(11):810-3. PubMed ID: 19087561
[TBL] [Abstract][Full Text] [Related]
14. Prenatal diagnosis of adrenoleukodystrophy by means of mutation analysis.
Imamura A; Suzuki Y; Song XQ; Fukao T; Shimozawa N; Orii T; Kondo N
Prenat Diagn; 1996 Mar; 16(3):259-61. PubMed ID: 8710781
[TBL] [Abstract][Full Text] [Related]
15. A model for ATM heterozygote identification in a large population: four founder-effect ATM mutations identify most of Costa Rican patients with ataxia telangiectasia.
Telatar M; Wang S; Castellvi-Bel S; Tai LQ; Sheikhavandi S; Regueiro JR; Porras O; Gatti RA
Mol Genet Metab; 1998 May; 64(1):36-43. PubMed ID: 9682216
[TBL] [Abstract][Full Text] [Related]
16. Chorionic villi ultrastructure in the prenatal diagnosis of glycogenosis type II.
San Millan B; Teijeira S; Domínguez C; Vieitez I; Navarro C
J Inherit Metab Dis; 2010 Dec; 33 Suppl 3():S105-11. PubMed ID: 20157781
[TBL] [Abstract][Full Text] [Related]
17. Diversity of ATM gene mutations detected in patients with ataxia-telangiectasia.
Concannon P; Gatti RA
Hum Mutat; 1997; 10(2):100-7. PubMed ID: 9259193
[TBL] [Abstract][Full Text] [Related]
18. Prenatal diagnosis of fetal glutaric aciduria type 1 with rare compound heterozygous mutations in GCDH gene.
Peng HH; Shaw SW; Huang KG
Taiwan J Obstet Gynecol; 2018 Feb; 57(1):137-140. PubMed ID: 29458885
[TBL] [Abstract][Full Text] [Related]
19. Characterization of ATM mutations in 41 Nordic families with ataxia telangiectasia.
Laake K; Jansen L; Hahnemann JM; Brondum-Nielsen K; Lönnqvist T; Kääriäinen H; Sankila R; Lähdesmäki A; Hammarström L; Yuen J; Tretli S; Heiberg A; Olsen JH; Tucker M; Kleinerman R; Børresen-Dale AL
Hum Mutat; 2000 Sep; 16(3):232-46. PubMed ID: 10980530
[TBL] [Abstract][Full Text] [Related]
20. Prenatal diagnosis of cystic fibrosis: a case of twin pregnancy diagnosis and a review of 5 years' experience.
Castaldo G; Martinelli P; Massa C; Fuccio A; Grosso M; Rippa E; Paladini D; Salvatore F
Clin Chim Acta; 2000 Aug; 298(1-2):121-33. PubMed ID: 10876009
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]