{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,14]],"date-time":"2026-04-14T02:21:41Z","timestamp":1776133301343,"version":"3.50.1"},"reference-count":12,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2001,7,3]],"date-time":"2001-07-03T00:00:00Z","timestamp":994118400000},"content-version":"vor","delay-in-days":2,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2001,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Respiratory chain deficiency (RCD) is responsible for a clinically heterogeneous group of early\u2010onset untreatable disorders. Enzymological prenatal diagnosis (PD) can only be offered to a fraction of families. Moreover, due to the two\u2010fold genetic origin of the respiratory chain (nuclear and mitochondrial DNA) and owing to the large number of nuclear genes involved in the respiratory chain assembly, maintenance and functioning, the identification of the disease causing gene in a given family remains challenging. Here, we report on PD of RCD by direct screening of <jats:italic>NDUFV1<\/jats:italic>, <jats:italic>SDH\u2010Fp<\/jats:italic>, <jats:italic>SCO1<\/jats:italic> and <jats:italic>SURF1<\/jats:italic> mutations in five unrelated families with complex I, II and IV deficiency, respectively. The identification of the disease\u2010causing gene in a given family with RCD is a major issue to provide both adequate genetic counselling and early, reliable PD. Copyright \u00a9 2001 John Wiley &amp; Sons, Ltd.<\/jats:p>","DOI":"10.1002\/pd.126","type":"journal-article","created":{"date-parts":[[2002,9,11]],"date-time":"2002-09-11T01:16:37Z","timestamp":1031706997000},"page":"602-604","source":"Crossref","is-referenced-by-count":12,"title":["Prenatal diagnosis of respiratory chain deficiency by direct mutation screening"],"prefix":"10.1002","volume":"21","author":[{"given":"Jeanne","family":"Amiel","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nadine","family":"Gigarel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexandra","family":"Benacki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paule","family":"Benit","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Isabelle","family":"Valnot","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B\u00e9atrice","family":"Parfait","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jurgen\u2010Christoph","family":"Von Kleist\u2010Retzow","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Val\u00e9rie","family":"Raclin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sma\u00efl","family":"Hadj\u2010Rabia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yves","family":"Dumez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pierre","family":"Rustin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean\u2010Paul","family":"Bonnefont","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arnold","family":"Munnich","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Agn\u00e8s","family":"R\u00f6tig","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2001,7,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1086\/320603"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/1097-0223(200009)20:9<732::AID-PD916>3.0.CO;2-#"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.ge.29.120195.001055"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(99)05225-3"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(99)05226-5"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(200002)15:2<123::AID-HUMU1>3.0.CO;2-P"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02002711"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390051033"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01799118"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/6772"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1086\/321202"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.38.2.109"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpd.126","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.126","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,7]],"date-time":"2023-10-07T12:03:18Z","timestamp":1696680198000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.126"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2001,7]]},"references-count":12,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2001,7]]}},"alternative-id":["10.1002\/pd.126"],"URL":"https:\/\/doi.org\/10.1002\/pd.126","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[2001,7]]}}}