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Page 1
Morphological and genetic causes of fetal cardiomyopathies.
Kohaut E, Ader F, Rooryck C, Pelluard F, Bonnière M, André G, Sauvestre F, Roth P, Khraiche D, Bessières B, Attié-Bitach T, Richard P. Kohaut E, et al. Clin Genet. 2023 Jul;104(1):63-72. doi: 10.1111/cge.14333. Epub 2023 May 20. Clin Genet. 2023. PMID: 37209000
Matthew-Wood syndrome: report of two new cases supporting autosomal recessive inheritance and exclusion of FGF10 and FGFR2.
Martinovic-Bouriel J, Bernabé-Dupont C, Golzio C, Grattagliano-Bessières B, Malan V, Bonnière M, Esculpavit C, Fallet-Bianco C, Mirlesse V, Le Bidois J, Aubry MC, Vekemans M, Morichon N, Etchevers H, Attié-Bitach T, Encha-Razavi F, Benachi A. Martinovic-Bouriel J, et al. Am J Med Genet A. 2007 Feb 1;143A(3):219-28. doi: 10.1002/ajmg.a.31599. Am J Med Genet A. 2007. PMID: 17236193
Refining the clinicopathological pattern of cerebral proliferative glomeruloid vasculopathy (Fowler syndrome): report of 16 fetal cases.
Bessières-Grattagliano B, Foliguet B, Devisme L, Loeuillet L, Marcorelles P, Bonnière M, Laquerrière A, Fallet-Bianco C, Martinovic J, Zrelli S, Leticee N, Cayol V, Etchevers HC, Vekemans M, Attie-Bitach T, Encha-Razavi F. Bessières-Grattagliano B, et al. Eur J Med Genet. 2009 Nov-Dec;52(6):386-92. doi: 10.1016/j.ejmg.2009.07.006. Epub 2009 Jul 25. Eur J Med Genet. 2009. PMID: 19635601
PAX2 mutations in fetal renal hypodysplasia.
Martinovic-Bouriel J, Benachi A, Bonnière M, Brahimi N, Esculpavit C, Morichon N, Vekemans M, Antignac C, Salomon R, Encha-Razavi F, Attié-Bitach T, Gubler MC. Martinovic-Bouriel J, et al. Am J Med Genet A. 2010 Apr;152A(4):830-5. doi: 10.1002/ajmg.a.33133. Am J Med Genet A. 2010. PMID: 20358591
High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy.
Thomas S, Encha-Razavi F, Devisme L, Etchevers H, Bessieres-Grattagliano B, Goudefroye G, Elkhartoufi N, Pateau E, Ichkou A, Bonnière M, Marcorelle P, Parent P, Manouvrier S, Holder M, Laquerrière A, Loeuillet L, Roume J, Martinovic J, Mougou-Zerelli S, Gonzales M, Meyer V, Wessner M, Feysot CB, Nitschke P, Leticee N, Munnich A, Lyonnet S, Wookey P, Gyapay G, Foliguet B, Vekemans M, Attié-Bitach T. Thomas S, et al. Hum Mutat. 2010 Oct;31(10):1134-41. doi: 10.1002/humu.21329. Hum Mutat. 2010. PMID: 20690116
Phenotypic spectrum of fetal Smith-Lemli-Opitz syndrome.
Quélin C, Loget P, Verloes A, Bazin A, Bessières B, Laquerrière A, Patrier S, Grigorescu R, Encha-Razavi F, Delahaye S, Jouannic JM, Carbonne B, D'Hervé D, Aubry MC, Macé G, Harvey T, Ville Y, Viot G, Joyé N, Odent S, Attié-Bitach T, Wolf C, Chevy F, Benlian P, Gonzales M. Quélin C, et al. Eur J Med Genet. 2012 Feb;55(2):81-90. doi: 10.1016/j.ejmg.2011.12.002. Epub 2011 Dec 22. Eur J Med Genet. 2012. PMID: 22226660 Free article.
Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies.
Devisme L, Bouchet C, Gonzalès M, Alanio E, Bazin A, Bessières B, Bigi N, Blanchet P, Bonneau D, Bonnières M, Bucourt M, Carles D, Clarisse B, Delahaye S, Fallet-Bianco C, Figarella-Branger D, Gaillard D, Gasser B, Delezoide AL, Guimiot F, Joubert M, Laurent N, Laquerrière A, Liprandi A, Loget P, Marcorelles P, Martinovic J, Menez F, Patrier S, Pelluard F, Perez MJ, Rouleau C, Triau S, Attié-Bitach T, Vuillaumier-Barrot S, Seta N, Encha-Razavi F. Devisme L, et al. Brain. 2012 Feb;135(Pt 2):469-82. doi: 10.1093/brain/awr357. Epub 2012 Feb 9. Brain. 2012. PMID: 22323514
TCTN3 mutations cause Mohr-Majewski syndrome.
Thomas S, Legendre M, Saunier S, Bessières B, Alby C, Bonnière M, Toutain A, Loeuillet L, Szymanska K, Jossic F, Gaillard D, Yacoubi MT, Mougou-Zerelli S, David A, Barthez MA, Ville Y, Bole-Feysot C, Nitschke P, Lyonnet S, Munnich A, Johnson CA, Encha-Razavi F, Cormier-Daire V, Thauvin-Robinet C, Vekemans M, Attié-Bitach T. Thomas S, et al. Am J Hum Genet. 2012 Aug 10;91(2):372-8. doi: 10.1016/j.ajhg.2012.06.017. Am J Hum Genet. 2012. PMID: 22883145 Free PMC article.
229 results