{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,26]],"date-time":"2025-10-26T21:12:02Z","timestamp":1761513122282},"reference-count":15,"publisher":"Springer Science and Business Media LLC","issue":"7","license":[{"start":{"date-parts":[[2012,4,22]],"date-time":"2012-04-22T00:00:00Z","timestamp":1335052800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Assist Reprod Genet"],"published-print":{"date-parts":[[2012,7]]},"DOI":"10.1007\/s10815-012-9765-3","type":"journal-article","created":{"date-parts":[[2012,4,21]],"date-time":"2012-04-21T17:57:47Z","timestamp":1335031067000},"page":"687-692","source":"Crossref","is-referenced-by-count":11,"title":["Severe combined immunodeficiency (SCID): From the detection of a new mutation to preimplantation genetic diagnosis"],"prefix":"10.1007","volume":"29","author":[{"given":"Reut","family":"Tomashov-Matar","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Galia","family":"Biran","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Irina","family":"Lagovsky","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Neomi","family":"Kotler","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anat","family":"Stein","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Benjamin","family":"Fisch","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Onit","family":"Sapir","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mordechai","family":"Shohat","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2012,4,22]]},"reference":[{"key":"9765_CR1","doi-asserted-by":"crossref","first-page":"929","DOI":"10.1002\/pd.2070","volume":"28","author":"G Altarescu","year":"2008","unstructured":"Altarescu G, Eldar Geva T, Brooks B, Margalioth E, Levy-Lahad E, Renbaum P. PGD on a recombinant allele: crossover between the TSC2 gene and \u201clinked\u201d markers impairs accurate diagnosis. Prenat Diagn. 2008;28:929\u201333.","journal-title":"Prenat Diagn"},{"key":"9765_CR2","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1542\/peds.93.2.265","volume":"93","author":"F Berthet","year":"1994","unstructured":"Berthet F, Le Deist F, Duliege AM, Griscelli C, Fischer A. Clinical consequences and treatment of primary immunodeficiency syndromes characterized by functional T and B lymphocyte anomalies (combined immune deficiency). Pediatrics. 1994;93:265\u201370.","journal-title":"Pediatrics"},{"key":"9765_CR3","doi-asserted-by":"crossref","first-page":"378","DOI":"10.1016\/S0022-3476(97)70199-9","volume":"130","author":"RH Buckley","year":"1997","unstructured":"Buckley RH, Schiff RI, Schiff SE, Markert ML, Williams LW, Harville TO, Roberts JL, Puck JM. Human severe combined immunodeficiency: genetic, phenotypic, and functional diversity in one hundred eight infants. J Pediatr. 1997;130:378\u201387.","journal-title":"J Pediatr"},{"key":"9765_CR4","doi-asserted-by":"crossref","first-page":"625","DOI":"10.1146\/annurev.immunol.22.012703.104614","volume":"22","author":"RH Buckley","year":"2004","unstructured":"Buckley RH. Molecular defects in human severe combined immunodeficiency and approaches to immune reconstitution. Annu Rev Immunol. 2004;22:625\u201355.","journal-title":"Annu Rev Immunol"},{"key":"9765_CR5","doi-asserted-by":"crossref","first-page":"1253","DOI":"10.1016\/S0031-3955(05)70270-4","volume":"47","author":"ME Elder","year":"2000","unstructured":"Elder ME. T-cell immunodeficiencies. Pediatr Clin North Am. 2000;47:1253\u201374.","journal-title":"Pediatr Clin North Am"},{"key":"9765_CR6","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1093\/nar\/gkg129","volume":"31","author":"D Karolchik","year":"2003","unstructured":"Karolchik D, Baertsch R, Diekhans M, Furey TS, Hinrichs A, Lu YT, Roskin KM, Schwartz M, Sugnet CW, Thomas DJ, Weber RJ, Haussler D, Kent WJ. The UCSC genome browser database. Nucleic Acids Res. 2003;31:51\u20134.","journal-title":"Nucleic Acids Res"},{"key":"9765_CR7","doi-asserted-by":"crossref","first-page":"200","DOI":"10.1038\/35105066","volume":"1","author":"WJ Leonard","year":"2001","unstructured":"Leonard WJ. Cytokines and immunodeficiency diseases. Nat Rev Immunol. 2001;1:200\u20138.","journal-title":"Nat Rev Immunol"},{"key":"9765_CR8","first-page":"150","volume-title":"Human Genetics: Concepts and Applications","author":"R Lewis","year":"2005","unstructured":"Lewis R. Human Genetics: Concepts and Applications. 6th ed. New York: McGraw Hill; 2005. p. 150\u20134.","edition":"6"},{"key":"9765_CR9","doi-asserted-by":"crossref","first-page":"781","DOI":"10.1016\/S0092-8674(02)00671-2","volume":"108","author":"Y Ma","year":"2002","unstructured":"Ma Y, Pannicke U, Schwarz K, Lieber MR. Hairpin opening and overhang processing by Artemis\/DNA-dependent protein kinase complex in nonhomologous end joining and V(D)J recombination. Cell. 2002;108:781\u201394.","journal-title":"Cell"},{"key":"9765_CR10","doi-asserted-by":"crossref","first-page":"845","DOI":"10.1016\/j.dnarep.2005.04.013","volume":"4","author":"Y Ma","year":"2005","unstructured":"Ma Y, Schwarz K, Lieber MR. The Artemis: DNA-PKcs endonuclease cleaves DNA loops, flaps, and gaps. DNA Repair (Amst). 2005;4:845\u201351.","journal-title":"DNA Repair (Amst)"},{"key":"9765_CR11","doi-asserted-by":"crossref","first-page":"1215","DOI":"10.1093\/nar\/16.3.1215","volume":"16","author":"SA Miller","year":"1988","unstructured":"Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acid Res. 1988;16:1215.","journal-title":"Nucleic Acid Res"},{"key":"9765_CR12","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1111\/j.0105-2896.2005.00220.x","volume":"203","author":"M Pesu","year":"2005","unstructured":"Pesu M, Candotti F, Husa M, Hofmann SR, Notarangelo LD, O\u2019Shea JJ. Jak3, severe combined immunodeficiency, and a new class of immunosuppressive drugs. Immunol Rev. 2005;203:127\u201342.","journal-title":"Immunol Rev"},{"key":"9765_CR13","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1023\/A:1022532108472","volume":"15","author":"S Rechitsky","year":"1998","unstructured":"Rechitsky S, Strom C, Verlinsky O, Amet T, Ivakhnenko V, Kukharenko V, Kuliev A, Verlinsky Y. Allele dropout in polar bodies and blastomeres. J Assist Reprod Genet. 1998;15:253\u20137.","journal-title":"J Assist Reprod Genet"},{"key":"9765_CR14","doi-asserted-by":"crossref","first-page":"490","DOI":"10.1002\/pd.109","volume":"21","author":"AR Thornhill","year":"2001","unstructured":"Thornhill AR, McGrath JA, Eady RA, Braude PR, Handyside AH. A comparison of different lysis buffers to assess allele dropout from single cells for preimplantation genetic diagnosis. Prenat Diagn. 2001;21:490\u20137.","journal-title":"Prenat Diagn"},{"key":"9765_CR15","first-page":"15","volume-title":"Atlas of preimplantation genetic diagnosis","author":"Y Verlinsky","year":"2005","unstructured":"Verlinsky Y, Kuliev A. Micromanipulation and biopsy of polar bodies and blastomeres. In: Verlinsky Y, Kuliev A, editors. Atlas of preimplantation genetic diagnosis. 2nd ed. Oxon: Taylor and Francis, Abingdon; 2005. p. 15\u201322.","edition":"2"}],"container-title":["Journal of Assisted Reproduction and Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10815-012-9765-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s10815-012-9765-3\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10815-012-9765-3","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,1,13]],"date-time":"2022-01-13T15:44:07Z","timestamp":1642088647000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s10815-012-9765-3"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,4,22]]},"references-count":15,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2012,7]]}},"alternative-id":["9765"],"URL":"https:\/\/doi.org\/10.1007\/s10815-012-9765-3","relation":{},"ISSN":["1058-0468","1573-7330"],"issn-type":[{"value":"1058-0468","type":"print"},{"value":"1573-7330","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,4,22]]}}}