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A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome.
Clin Genet. 2021 Feb;99(2):318-324. doi: 10.1111/cge.13878. Epub 2020 Nov 14.
Clin Genet. 2021.
PMID: 33169370
Free PMC article.
Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes.
Mary L, Chennen K, Stoetzel C, Antin M, Leuvrey A, Nourisson E, Alanio-Detton E, Antal MC, Attié-Bitach T, Bouvagnet P, Bouvier R, Buenerd A, Clémenson A, Devisme L, Gasser B, Gilbert-Dussardier B, Guimiot F, Khau Van Kien P, Leroy B, Loget P, Martinovic J, Pelluard F, Perez MJ, Petit F, Pinson L, Rooryck-Thambo C, Poch O, Dollfus H, Schaefer E, Muller J.
Mary L, et al. Among authors: antin m.
Clin Genet. 2019 Mar;95(3):384-397. doi: 10.1111/cge.13500.
Clin Genet. 2019.
PMID: 30614526
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High prevalence of Bardet-Biedl syndrome in La Réunion Island is due to a founder variant in ARL6/BBS3.
Gouronc A, Zilliox V, Jacquemont ML, Darcel F, Leuvrey AS, Nourisson E, Antin M, Alessandri JL, Doray B, Gueguen P, Payet F, Randrianaivo H, Stoetzel C, Scheidecker S, Flodrops H, Dollfus H, Muller J.
Gouronc A, et al. Among authors: antin m.
Clin Genet. 2020 Aug;98(2):166-171. doi: 10.1111/cge.13768. Epub 2020 Jun 22.
Clin Genet. 2020.
PMID: 32361989
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Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140.
Geoffroy V, Stoetzel C, Scheidecker S, Schaefer E, Perrault I, Bär S, Kröll A, Delbarre M, Antin M, Leuvrey AS, Henry C, Blanché H, Decker E, Kloth K, Klaus G, Mache C, Martin-Coignard D, McGinn S, Boland A, Deleuze JF, Friant S, Saunier S, Rozet JM, Bergmann C, Dollfus H, Muller J.
Geoffroy V, et al. Among authors: antin m.
Hum Mutat. 2018 Jul;39(7):983-992. doi: 10.1002/humu.23539. Epub 2018 May 8.
Hum Mutat. 2018.
PMID: 29688594
Free article.
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Exonic microdeletions in the X-linked PQBP1 gene in mentally retarded patients: a pathogenic mutation and in-frame deletions of uncertain effect.
Cossée M, Demeer B, Blanchet P, Echenne B, Singh D, Hagens O, Antin M, Finck S, Vallee L, Dollfus H, Hegde S, Springell K, Thelma BK, Woods G, Kalscheuer V, Mandel JL.
Cossée M, et al. Among authors: antin m.
Eur J Hum Genet. 2006 Apr;14(4):418-25. doi: 10.1038/sj.ejhg.5201593.
Eur J Hum Genet. 2006.
PMID: 16493439
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Homozygous SMN1 exons 1-6 deletion: pitfalls in genetic counseling and general recommendations for spinal muscular atrophy molecular diagnosis.
Thauvin-Robinet C, Drunat S, Saugier Veber P, Chantereau D, Cossée M, Cassini C, Soichot P, Masurel-Paulet A, De Monléon JV, Sagot P, Huet F, Antin M, Calmels N, Faivre L, Gérard B; “réseau français de génétique moléculaire”.
Thauvin-Robinet C, et al. Among authors: antin m.
Am J Med Genet A. 2012 Jul;158A(7):1735-41. doi: 10.1002/ajmg.a.35402. Epub 2012 Jun 7.
Am J Med Genet A. 2012.
PMID: 22678974
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Key-free compression hip screw in the treatment of intertrochanteric fractures with early weight-bearing: a clinical study.
Antin ME.
Antin ME.
J Am Osteopath Assoc. 1983 May;82(9):661-8.
J Am Osteopath Assoc. 1983.
PMID: 6863041
No abstract available.
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