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Page 1
Molecular heterogeneity in fetal forms of type II lissencephaly.
Bouchet C, Gonzales M, Vuillaumier-Barrot S, Devisme L, Lebizec C, Alanio E, Bazin A, Bessières-Grattagliano B, Bigi N, Blanchet P, Bonneau D, Bonnières M, Carles D, Delahaye S, Fallet-Bianco C, Figarella-Branger D, Gaillard D, Gasser B, Guimiot F, Joubert M, Laurent N, Liprandi A, Loget P, Marcorelles P, Martinovic J, Menez F, Patrier S, Pelluard-Nehmé F, Perez MJ, Rouleau-Dubois C, Triau S, Laquerrière A, Encha-Razavi F, Seta N. Bouchet C, et al. Among authors: martinovic j. Hum Mutat. 2007 Oct;28(10):1020-7. doi: 10.1002/humu.20561. Hum Mutat. 2007. PMID: 17559086
Neocortical neuronal arrangement in LIS1 and DCX lissencephaly may be different.
Viot G, Sonigo P, Simon I, Simon-Bouy B, Chadeyron F, Beldjord C, Tantau J, Martinovic J, Esculpavit C, Brunelle F, Munnich A, Vekemans M, Encha-Razavi F. Viot G, et al. Among authors: martinovic j. Am J Med Genet A. 2004 Apr 15;126A(2):123-8. doi: 10.1002/ajmg.a.20569. Am J Med Genet A. 2004. PMID: 15057976
Oto-onycho-peroneal syndrome: further delineation and first fetal report.
Bessieres-Grattagliano B, Brodaty G, Martinovic J, Fallet-Bianco C, Delezoide AL, Daffos F. Bessieres-Grattagliano B, et al. Among authors: martinovic j. Am J Med Genet A. 2004 Jul 30;128A(3):316-9. doi: 10.1002/ajmg.a.30119. Am J Med Genet A. 2004. PMID: 15216555
Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome.
Karmous-Benailly H, Martinovic J, Gubler MC, Sirot Y, Clech L, Ozilou C, Auge J, Brahimi N, Etchevers H, Detrait E, Esculpavit C, Audollent S, Goudefroye G, Gonzales M, Tantau J, Loget P, Joubert M, Gaillard D, Jeanne-Pasquier C, Delezoide AL, Peter MO, Plessis G, Simon-Bouy B, Dollfus H, Le Merrer M, Munnich A, Encha-Razavi F, Vekemans M, Attié-Bitach T. Karmous-Benailly H, et al. Among authors: martinovic j. Am J Hum Genet. 2005 Mar;76(3):493-504. doi: 10.1086/428679. Epub 2005 Jan 21. Am J Hum Genet. 2005. PMID: 15666242 Free PMC article.
Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online.
Khaddour R, Smith U, Baala L, Martinovic J, Clavering D, Shaffiq R, Ozilou C, Cullinane A, Kyttälä M, Shalev S, Audollent S, d'Humières C, Kadhom N, Esculpavit C, Viot G, Boone C, Oien C, Encha-Razavi F, Batman PA, Bennett CP, Woods CG, Roume J, Lyonnet S, Génin E, Le Merrer M, Munnich A, Gubler MC, Cox P, Macdonald F, Vekemans M, Johnson CA, Attié-Bitach T; SOFFOET (Société Française de Foetopathologie). Khaddour R, et al. Among authors: martinovic j. Hum Mutat. 2007 May;28(5):523-4. doi: 10.1002/humu.9489. Hum Mutat. 2007. PMID: 17397051
Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome.
Baala L, Audollent S, Martinovic J, Ozilou C, Babron MC, Sivanandamoorthy S, Saunier S, Salomon R, Gonzales M, Rattenberry E, Esculpavit C, Toutain A, Moraine C, Parent P, Marcorelles P, Dauge MC, Roume J, Le Merrer M, Meiner V, Meir K, Menez F, Beaufrère AM, Francannet C, Tantau J, Sinico M, Dumez Y, MacDonald F, Munnich A, Lyonnet S, Gubler MC, Génin E, Johnson CA, Vekemans M, Encha-Razavi F, Attié-Bitach T. Baala L, et al. Among authors: martinovic j. Am J Hum Genet. 2007 Jul;81(1):170-9. doi: 10.1086/519494. Epub 2007 Jun 4. Am J Hum Genet. 2007. PMID: 17564974 Free PMC article.
299 results