These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
2. Reproductive empowerment: the main motivator and outcome of carrier testing. Lewis C; Skirton H; Jones R J Health Psychol; 2012 May; 17(4):567-78. PubMed ID: 21917912 [TBL] [Abstract][Full Text] [Related]
3. Recommendations for the elaboration of diagnostic genetic reports in the clinical setting. Oriola J; Carrasco P; Díez O; Ezquieta B; ; Med Clin (Barc); 2019 Oct; 153(7):293-297. PubMed ID: 31395279 [No Abstract] [Full Text] [Related]
4. Diagnostic accuracy: theoretical models for preimplantation genetic testing of a single nucleus using the fluorescence in situ hybridization technique. Scriven PN; Bossuyt PM Hum Reprod; 2010 Oct; 25(10):2622-8. PubMed ID: 20675683 [TBL] [Abstract][Full Text] [Related]
5. Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counseling. Pelletier V; Jambou M; Delphin N; Zinovieva E; Stum M; Gigarel N; Dollfus H; Hamel C; Toutain A; Dufier JL; Roche O; Munnich A; Bonnefont JP; Kaplan J; Rozet JM Hum Mutat; 2007 Jan; 28(1):81-91. PubMed ID: 16969763 [TBL] [Abstract][Full Text] [Related]
7. [Improvements in the diagnosis of dystrophinopathies: what have we learnt in these last 20 years?]. López-Hernández LB; Ayala-Madrigal ML; van Heusden D; Estrada-Mena FJ; Canto P; Sandoval-Ramírez L; Gómez-Díaz B; Coral-Vázquez RM Rev Neurol; 2011 Feb; 52(4):239-49. PubMed ID: 21312170 [TBL] [Abstract][Full Text] [Related]
8. Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome. Nagel M; Nagorka S; Gross O Hum Mutat; 2005 Jul; 26(1):60. PubMed ID: 15954103 [TBL] [Abstract][Full Text] [Related]
15. Policy recommendations for carrier testing and predictive testing in childhood: a distinction that makes a real difference. Hogben S; Boddington P J Genet Couns; 2005 Aug; 14(4):271-81. PubMed ID: 16047090 [TBL] [Abstract][Full Text] [Related]
16. Detection of mosaic retinal dysfunction in choroideremia carriers electroretinographic and psychophysical testing. Vajaranant TS; Fishman GA; Szlyk JP; Grant-Jordan P; Lindeman M; Seiple W Ophthalmology; 2008 Apr; 115(4):723-9. PubMed ID: 18201765 [TBL] [Abstract][Full Text] [Related]
17. Hematopoietic stem cell transplantation for X-linked thrombocytopenia from a mild symptomatic carrier. Okuya M; Kurosawa H; Kubota T; Endoh K; Ogiwara A; Nonoyama S; Hagisawa S; Sato Y; Matsushita T; Fukushima K; Sugita K; Sato T; Arisaka O Bone Marrow Transplant; 2010 Mar; 45(3):607-9. PubMed ID: 19684625 [No Abstract] [Full Text] [Related]
18. Screening for the fragile X syndrome: the necessity of international guidelines for molecular genetics predictive testing in general. Fryns JP Genet Couns; 1995; 6(4):293-6. PubMed ID: 8775414 [No Abstract] [Full Text] [Related]
19. Electrophysiology extends the phenotypic spectrum of X-linked myopathy with excessive autophagy. Munteanu I; Ackerley CA; Mnatzakanian GN; Kissel JT; Minassian BA Neurology; 2005 Mar; 64(5):927-8. PubMed ID: 15753448 [No Abstract] [Full Text] [Related]