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Items: 1 to 50 of 205

1.

CD117hi expression identifies a human fetal Hematopoietic Stem Cell population with high proliferation and self-renewal potential.

Maillard L, Sanfilippo S, Domenech C, Kasmi N, Petit L, Jacques S, Delezoide AL, Guimiot F, Eladak S, Moison D, Nicolas N, Rouiller-Fabre V, Pozzi-Godin S, Mennesson B, Brival ML, Letourneur F, Jaffredo T, Chomienne C, Souyri M.

Haematologica. 2019 Jun 27. pii: haematol.2018.207811. doi: 10.3324/haematol.2018.207811. [Epub ahead of print]

2.

Duplicated distal phalanx of thumb or hallux in trisomy 13: A recurrent feature in a series of 42 fetuses.

Létard P, Guimiot F, Dupont C, Rosenblatt J, Delezoide AL, Khung-Savatovsky S.

Am J Med Genet A. 2018 Nov;176(11):2325-2330. doi: 10.1002/ajmg.a.40505. Epub 2018 Oct 17.

PMID:
30328679
3.

Severe Phenotype of Cutis Laxa Type 1B with Antenatal Signs due to a Novel Homozygous Nonsense Mutation in EFEMP2.

Letard P, Schepers D, Albuisson J, Bruneval P, Spaggiari E, Van de Beek G, Khung-Savatovsky S, Belarbi N, Capri Y, Delezoide AL, Loeys B, Guimiot F.

Mol Syndromol. 2018 Jul;9(4):190-196. doi: 10.1159/000489838. Epub 2018 Jun 8.

4.

Hippocampal Radial Glial Subtypes and Their Neurogenic Potential in Human Fetuses and Healthy and Alzheimer's Disease Adults.

Cipriani S, Ferrer I, Aronica E, Kovacs GG, Verney C, Nardelli J, Khung S, Delezoide AL, Milenkovic I, Rasika S, Manivet P, Benifla JL, Deriot N, Gressens P, Adle-Biassette H.

Cereb Cortex. 2018 Jul 1;28(7):2458-2478. doi: 10.1093/cercor/bhy096.

PMID:
29722804
5.

Prenatal diagnosis of focal dermal hypoplasia: Report of three fetuses and review of the literature.

Mary L, Scheidecker S, Kohler M, Lombardi MP, Delezoide AL, Auberger E, Triau S, Colin E, Gerard M, Grzeschik KH, Dollfus H, Antal MC.

Am J Med Genet A. 2017 Feb;173(2):479-486. doi: 10.1002/ajmg.a.37974. Epub 2016 Sep 13. Review. Erratum in: Am J Med Genet A. 2017 Jun;173(6):1722-1724.

PMID:
27623003
6.

Posterior urethral valves and vesicoureteral reflux: can prenatal ultrasonography distinguish between these two conditions in male fetuses?

Chitrit Y, Bourdon M, Korb D, Grapin-Dagorno C, Joinau-Zoulovits F, Vuillard E, Paye-Jaouen A, Peycelon M, Belarbi N, Delezoide AL, Schmitz T, El Ghoneimi A, Sibony O, Oury JF.

Prenat Diagn. 2016 Sep;36(9):831-7. doi: 10.1002/pd.4868. Epub 2016 Jul 29.

PMID:
27374758
7.

Fetal anomalies associated with HNF1B mutations: report of 20 autopsy cases.

Duval H, Michel-Calemard L, Gonzales M, Loget P, Beneteau C, Buenerd A, Joubert M, Denis-Musquer M, Clemenson A, Chesnais AL, Blesson S, De Pinieux I, Delezoide AL, Bonyhay G, Bellanné-Chantelot C, Heidet L, Dupré F, Collardeau-Frachon S.

Prenat Diagn. 2016 Aug;36(8):744-51. doi: 10.1002/pd.4858. Epub 2016 Jul 6.

8.

A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndrome.

Nizon M, Henry M, Michot C, Baumann C, Bazin A, Bessières B, Blesson S, Cordier-Alex MP, David A, Delahaye-Duriez A, Delezoïde AL, Dieux-Coeslier A, Doco-Fenzy M, Faivre L, Goldenberg A, Layet V, Loget P, Marlin S, Martinovic J, Odent S, Pasquier L, Plessis G, Prieur F, Putoux A, Rio M, Testard H, Bonnefont JP, Cormier-Daire V.

Clin Genet. 2016 May;89(5):584-9. doi: 10.1111/cge.12720. Epub 2016 Feb 3.

9.

Safety study of Ciprofloxacin in newborn mice.

Bourgeois T, Delezoide AL, Zhao W, Guimiot F, Adle-Biassette H, Durand E, Ringot M, Gallego J, Storme T, Le Guellec C, Kassaï B, Turner MA, Jacqz-Aigrain E, Matrot B.

Regul Toxicol Pharmacol. 2016 Feb;74:161-9. doi: 10.1016/j.yrtph.2015.11.002. Epub 2015 Nov 26.

10.

The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype.

Barat-Houari M, Dumont B, Fabre A, Them FT, Alembik Y, Alessandri JL, Amiel J, Audebert S, Baumann-Morel C, Blanchet P, Bieth E, Brechard M, Busa T, Calvas P, Capri Y, Cartault F, Chassaing N, Ciorca V, Coubes C, David A, Delezoide AL, Dupin-Deguine D, El Chehadeh S, Faivre L, Giuliano F, Goldenberg A, Isidor B, Jacquemont ML, Julia S, Kaplan J, Lacombe D, Lebrun M, Marlin S, Martin-Coignard D, Martinovic J, Masurel A, Melki J, Mozelle-Nivoix M, Nguyen K, Odent S, Philip N, Pinson L, Plessis G, Quélin C, Shaeffer E, Sigaudy S, Thauvin C, Till M, Touraine R, Vigneron J, Baujat G, Cormier-Daire V, Le Merrer M, Geneviève D, Touitou I.

Eur J Hum Genet. 2016 Jul;24(7):992-1000. doi: 10.1038/ejhg.2015.250. Epub 2015 Dec 2.

11.

Dynamic Expression Patterns of Progenitor and Neuron Layer Markers in the Developing Human Dentate Gyrus and Fimbria.

Cipriani S, Journiac N, Nardelli J, Verney C, Delezoide AL, Guimiot F, Gressens P, Adle-Biassette H.

Cereb Cortex. 2017 Jan 1;27(1):358-372. doi: 10.1093/cercor/bhv223.

12.

Fetal phenotypes in otopalatodigital spectrum disorders.

Naudion S, Moutton S, Coupry I, Sole G, Deforges J, Guerineau E, Hubert C, Deves S, Pilliod J, Rooryck C, Abel C, Le Breton F, Collardeau-Frachon S, Cordier MP, Delezoide AL, Goldenberg A, Loget P, Melki J, Odent S, Patrier S, Verloes A, Viot G, Blesson S, Bessières B, Lacombe D, Arveiler B, Goizet C, Fergelot P.

Clin Genet. 2016 Mar;89(3):371-7. doi: 10.1111/cge.12679. Epub 2015 Oct 29.

PMID:
26404489
13.

Correlation between low FAT1 expression and early affected muscle in facioscapulohumeral muscular dystrophy.

Mariot V, Roche S, Hourdé C, Portilho D, Sacconi S, Puppo F, Duguez S, Rameau P, Caruso N, Delezoide AL, Desnuelle C, Bessières B, Collardeau S, Feasson L, Maisonobe T, Magdinier F, Helmbacher F, Butler-Browne G, Mouly V, Dumonceaux J.

Ann Neurol. 2015 Sep;78(3):387-400. doi: 10.1002/ana.24446. Epub 2015 Jul 3.

PMID:
26018399
14.

Dynamic Expression Patterns of Progenitor and Pyramidal Neuron Layer Markers in the Developing Human Hippocampus.

Cipriani S, Nardelli J, Verney C, Delezoide AL, Guimiot F, Gressens P, Adle-Biassette H.

Cereb Cortex. 2016 Mar;26(3):1255-71. doi: 10.1093/cercor/bhv079. Epub 2015 Apr 16.

PMID:
25882041
15.

Severe X-linked chondrodysplasia punctata in nine new female fetuses.

Lefebvre M, Dufernez F, Bruel AL, Gonzales M, Aral B, Saint-Onge J, Gigot N, Desir J, Daelemans C, Jossic F, Schmitt S, Mangione R, Pelluard F, Vincent-Delorme C, Labaune JM, Bigi N, D'Olne D, Delezoide AL, Toutain A, Blesson S, Cormier-Daire V, Thevenon J, El Chehadeh S, Masurel-Paulet A, Joyé N, Vibert-Guigue C, Rigonnot L, Rousseau T, Vabres P, Hervé P, Lamazière A, Rivière JB, Faivre L, Laurent N, Thauvin-Robinet C.

Prenat Diagn. 2015 Jul;35(7):675-84. doi: 10.1002/pd.4591. Epub 2015 Mar 30.

PMID:
25754886
16.

Prenatal phenotype of Williams-Beuren syndrome and of the reciprocal duplication syndrome.

Marcato L, Turolla L, Pompilii E, Dupont C, Gruchy N, De Toffol S, Bracalente G, Bacrot S, Troilo E, Tabet AC, Rossi S, Delezoïde AL, Baldo D, Leporrier N, Maggi F, Molin A, Pilu G, Simoni G, Vialard F, Grati FR.

Clin Case Rep. 2014 Apr;2(2):25-32. doi: 10.1002/ccr3.48. Epub 2014 Feb 6.

17.

Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.

El Khattabi L, Guimiot F, Pipiras E, Andrieux J, Baumann C, Bouquillon S, Delezoide AL, Delobel B, Demurger F, Dessuant H, Drunat S, Dubourg C, Dupont C, Faivre L, Holder-Espinasse M, Jaillard S, Journel H, Lyonnet S, Malan V, Masurel A, Marle N, Missirian C, Moerman A, Moncla A, Odent S, Palumbo O, Palumbo P, Ravel A, Romana S, Tabet AC, Valduga M, Vermelle M, Carella M, Dupont JM, Verloes A, Benzacken B, Delahaye A.

Eur J Hum Genet. 2015 Aug;23(8):1010-8. doi: 10.1038/ejhg.2014.230. Epub 2014 Nov 5.

18.

Biochemical analysis of ascites fluid as an aid to etiological diagnosis: a series of 100 cases of nonimmune fetal ascites.

Dreux S, Salomon LJ, Rosenblatt J, Favre R, Houfflin-Debarge V, Broussin B, Guimiot F, Fenaux H, Delezoide AL, Muller F.

Prenat Diagn. 2015 Mar;35(3):214-20. doi: 10.1002/pd.4522. Epub 2014 Nov 26.

PMID:
25346315
19.

Fetal phenotype associated with the 22q11 deletion.

Noël AC, Pelluard F, Delezoide AL, Devisme L, Loeuillet L, Leroy B, Martin A, Bouvier R, Laquerriere A, Jeanne-Pasquier C, Bessieres-Grattagliano B, Mechler C, Alanio E, Leroy C, Gaillard D.

Am J Med Genet A. 2014 Nov;164A(11):2724-31. doi: 10.1002/ajmg.a.36720. Epub 2014 Aug 8.

PMID:
25111715
20.

Inversion duplication deletions involving the long arm of chromosome 13: phenotypic description of additional three fetuses and genotype-phenotype correlation.

Quelin C, Spaggiari E, Khung-Savatovsky S, Dupont C, Pasquier L, Loeuillet L, Jaillard S, Lucas J, Marcorelles P, Journel H, Pluquailec-Bilavarn K, Bazin A, Verloes A, Delezoide AL, Aboura A, Guimiot F.

Am J Med Genet A. 2014 Oct;164A(10):2504-9. doi: 10.1002/ajmg.a.36658. Epub 2014 Jun 26.

PMID:
24975584
21.

New insights into genotype-phenotype correlation for GLI3 mutations.

Démurger F, Ichkou A, Mougou-Zerelli S, Le Merrer M, Goudefroye G, Delezoide AL, Quélin C, Manouvrier S, Baujat G, Fradin M, Pasquier L, Megarbané A, Faivre L, Baumann C, Nampoothiri S, Roume J, Isidor B, Lacombe D, Delrue MA, Mercier S, Philip N, Schaefer E, Holder M, Krause A, Laffargue F, Sinico M, Amram D, André G, Liquier A, Rossi M, Amiel J, Giuliano F, Boute O, Dieux-Coeslier A, Jacquemont ML, Afenjar A, Van Maldergem L, Lackmy-Port-Lis M, Vincent-Delorme C, Chauvet ML, Cormier-Daire V, Devisme L, Geneviève D, Munnich A, Viot G, Raoul O, Romana S, Gonzales M, Encha-Razavi F, Odent S, Vekemans M, Attie-Bitach T.

Eur J Hum Genet. 2015 Jan;23(1):92-102. doi: 10.1038/ejhg.2014.62. Epub 2014 Apr 16.

22.

Cytomegalovirus-induced brain malformations in fetuses.

Teissier N, Fallet-Bianco C, Delezoide AL, Laquerrière A, Marcorelles P, Khung-Savatovsky S, Nardelli J, Cipriani S, Csaba Z, Picone O, Golden JA, Van Den Abbeele T, Gressens P, Adle-Biassette H.

J Neuropathol Exp Neurol. 2014 Feb;73(2):143-58. doi: 10.1097/NEN.0000000000000038.

PMID:
24423639
23.

Prenatal diagnosis of femoral-facial syndrome: report of two cases.

Silvas E, Rypens F, Jovanovic M, Delezoide AL, Patey N.

Birth Defects Res A Clin Mol Teratol. 2013 Dec;97(12):770-3. doi: 10.1002/bdra.23201. Epub 2013 Nov 19.

PMID:
24254654
24.

Outcome following prenatal diagnosis of severe bilateral renal hypoplasia.

Spaggiari E, Stirnemann JJ, Heidet L, Dreux S, Ville Y, Oury JF, Delezoide AL, Muller F.

Prenat Diagn. 2013 Dec;33(12):1167-72. doi: 10.1002/pd.4217. Epub 2013 Sep 1.

PMID:
23943585
25.

Outcome and etiologies of fetal megacystis according to the gestational age at diagnosis.

Bornes M, Spaggiari E, Schmitz T, Dreux S, Czerkiewicz I, Delezoide AL, El-Ghoneimi A, Oury JF, Muller F.

Prenat Diagn. 2013 Dec;33(12):1162-6. doi: 10.1002/pd.4215. Epub 2013 Sep 3.

PMID:
23939878
26.

Neuropathological review of 138 cases genetically tested for X-linked hydrocephalus: evidence for closely related clinical entities of unknown molecular bases.

Adle-Biassette H, Saugier-Veber P, Fallet-Bianco C, Delezoide AL, Razavi F, Drouot N, Bazin A, Beaufrère AM, Bessières B, Blesson S, Bucourt M, Carles D, Devisme L, Dijoud F, Fabre B, Fernandez C, Gaillard D, Gonzales M, Jossic F, Joubert M, Laurent N, Leroy B, Loeuillet L, Loget P, Marcorelles P, Martinovic J, Perez MJ, Satge D, Sinico M, Tosi M, Benichou J, Gressens P, Frebourg T, Laquerrière A.

Acta Neuropathol. 2013 Sep;126(3):427-42. doi: 10.1007/s00401-013-1146-1. Epub 2013 Jul 3.

PMID:
23820807
27.

First de novo mutation in RPS19 gene as the cause of hydrops fetalis in Diamond–Blackfan anemia.

Da Costa L, Chanoz-Poulard G, Simansour M, French M, Bouvier R, Prieur F, Couque N, Delezoide AL, Leblanc T, Mohandas N, Touraine R.

Am J Hematol. 2013 Apr;88(4):340-1. No abstract available.

PMID:
23641487
28.

Foetal serum but not urinary β2-microglobulin correlates with histological injury to the kidney.

Luton D, Delezoide AL, Leguy MC, Gobeaux C, Vuillard E, Grangé G, Guibourdenche J.

Clin Biochem. 2013 Oct;46(15):1607-10. doi: 10.1016/j.clinbiochem.2013.04.017. Epub 2013 Apr 26.

PMID:
23628594
29.

Mowat-Wilson syndrome in a fetus with antenatal diagnosis of short corpus callosum: advocacy for standard autopsy.

Spaggiari E, Baumann C, Alison M, Oury JF, Belarbi N, Dupont C, Guimiot F, Delezoide AL.

Eur J Med Genet. 2013 Jun;56(6):297-300. doi: 10.1016/j.ejmg.2013.03.003. Epub 2013 Mar 21.

PMID:
23523603
30.

First de novo mutation in RPS19 gene as the cause of hydrops fetalis in Diamond-Blackfan anemia.

Da Costa L, Chanoz-Poulard G, Simansour M, French M, Bouvier R, Prieur F, Couque N, Delezoide AL, Leblanc T, Mohandas N, Touraine R.

Am J Hematol. 2013 Feb;88(2):160. doi: 10.1002/ajh.23366. No abstract available. Erratum in: Am J Hematol. 2013 Apr;88(4):340-1.

31.

Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families.

Baujat G, Huber C, El Hokayem J, Caumes R, Do Ngoc Thanh C, David A, Delezoide AL, Dieux-Coeslier A, Estournet B, Francannet C, Kayirangwa H, Lacaille F, Le Bourgeois M, Martinovic J, Salomon R, Sigaudy S, Malan V, Munnich A, Le Merrer M, Le Quan Sang KH, Cormier-Daire V.

J Med Genet. 2013 Feb;50(2):91-8. doi: 10.1136/jmedgenet-2012-101282.

PMID:
23339108
32.

Management strategy in pregnancies with elevated second-trimester maternal serum alpha-fetoprotein based on a second assay.

Spaggiari E, Ruas M, Dreux S, Valat AS, Czerkiewicz I, Guimiot F, Schmitz T, Delezoide AL, Muller F.

Am J Obstet Gynecol. 2013 Apr;208(4):303.e1-7. doi: 10.1016/j.ajog.2013.01.010. Epub 2013 Jan 10.

PMID:
23313312
33.

Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia.

Huber C, Faqeih EA, Bartholdi D, Bole-Feysot C, Borochowitz Z, Cavalcanti DP, Frigo A, Nitschke P, Roume J, Santos HG, Shalev SA, Superti-Furga A, Delezoide AL, Le Merrer M, Munnich A, Cormier-Daire V.

Am J Hum Genet. 2013 Jan 10;92(1):144-9. doi: 10.1016/j.ajhg.2012.11.015. Epub 2012 Dec 27.

34.

Maternal transmission of interstitial 8p23.1 deletion detected during prenatal diagnosis.

Guimiot F, Dupont C, Fuentes-Duarte A, Aboura A, Bazin A, Khung-Savatovsky S, Tillous-Borde I, Delezoide AL, Azancot A.

Am J Med Genet A. 2013 Jan;161A(1):208-13. doi: 10.1002/ajmg.a.35690. Epub 2012 Dec 14.

PMID:
23239632
35.

Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations.

Legendre M, Gonzales M, Goudefroye G, Bilan F, Parisot P, Perez MJ, Bonnière M, Bessières B, Martinovic J, Delezoide AL, Jossic F, Fallet-Bianco C, Bucourt M, Tantau J, Loget P, Loeuillet L, Laurent N, Leroy B, Salhi H, Bigi N, Rouleau C, Guimiot F, Quélin C, Bazin A, Alby C, Ichkou A, Gesny R, Kitzis A, Ville Y, Lyonnet S, Razavi F, Gilbert-Dussardier B, Vekemans M, Attié-Bitach T.

J Med Genet. 2012 Nov;49(11):698-707. doi: 10.1136/jmedgenet-2012-100926. Epub 2012 Sep 28.

PMID:
23024289
36.

Negative fetal FSH/LH regulation in late pregnancy is associated with declined kisspeptin/KISS1R expression in the tuberal hypothalamus.

Guimiot F, Chevrier L, Dreux S, Chevenne D, Caraty A, Delezoide AL, de Roux N.

J Clin Endocrinol Metab. 2012 Dec;97(12):E2221-9. doi: 10.1210/jc.2012-2078. Epub 2012 Sep 26.

PMID:
23015653
37.

Description and outcome of a cohort of 8 patients with WHIM syndrome from the French Severe Chronic Neutropenia Registry.

Beaussant Cohen S, Fenneteau O, Plouvier E, Rohrlich PS, Daltroff G, Plantier I, Dupuy A, Kerob D, Beaupain B, Bordigoni P, Fouyssac F, Delezoide AL, Devouassoux G, Nicolas JF, Bensaid P, Bertrand Y, Balabanian K, Chantelot CB, Bachelerie F, Donadieu J.

Orphanet J Rare Dis. 2012 Sep 25;7:71. doi: 10.1186/1750-1172-7-71.

38.

Central nervous system malformations and deformations in FGFR2-related craniosynostosis.

Khonsari RH, Delezoide AL, Kang W, Hébert JM, Bessières B, Bodiguel V, Collet C, Legeai-Mallet L, Sharpe PT, Fallet-Bianco C.

Am J Med Genet A. 2012 Nov;158A(11):2797-806. doi: 10.1002/ajmg.a.35598. Epub 2012 Sep 17.

PMID:
22987770
39.

Thyroid function in fetuses with down syndrome.

Luton D, Azria E, Polak M, Carré A, Vuillard E, Delezoide AL, Guibourdenche J.

Horm Res Paediatr. 2012;78(2):88-93. Epub 2012 Aug 14.

PMID:
22907384
40.

Pre- and postnatal phenotype of 6p25 deletions involving the FOXC1 gene.

Delahaye A, Khung-Savatovsky S, Aboura A, Guimiot F, Drunat S, Alessandri JL, Gérard M, Bitoun P, Boumendil J, Robin S, Huel C, Guilherme R, Serero S, Gressens P, Elion J, Verloes A, Benzacken B, Delezoide AL, Pipiras E.

Am J Med Genet A. 2012 Oct;158A(10):2430-8. doi: 10.1002/ajmg.a.35548. Epub 2012 Aug 17.

PMID:
22903608
41.

Ultrasound detection of eyelashes: a clue for prenatal diagnosis of Cornelia de Lange syndrome.

Spaggiari E, Vuillard E, Khung-Savatovsky S, Muller F, Oury JF, Delezoide AL, Guimiot F.

Ultrasound Obstet Gynecol. 2013 Mar;41(3):341-2. doi: 10.1002/uog.12285. No abstract available.

42.

Prognosis and outcome of pregnancies exposed to renin-angiotensin system blockers.

Spaggiari E, Heidet L, Grange G, Guimiot F, Dreux S, Delezoide AL; Renin-Angiotensin System Blockers Study Group, Muller F.

Prenat Diagn. 2012 Nov;32(11):1071-6. doi: 10.1002/pd.3960. Epub 2012 Aug 18.

PMID:
22903358
43.

Prevalence, timing of diagnosis and mortality of newborns with congenital heart defects: a population-based study.

Khoshnood B, Lelong N, Houyel L, Thieulin AC, Jouannic JM, Magnier S, Delezoide AL, Magny JF, Rambaud C, Bonnet D, Goffinet F; EPICARD Study Group.

Heart. 2012 Nov;98(22):1667-73. doi: 10.1136/heartjnl-2012-302543. Epub 2012 Aug 11.

PMID:
22888161
44.

Prenatal phenotype of congenital hyperparathyroidism.

Spaggiari E, Bucau M, Capri Y, Belarbi N, Bekmezian A, Briffa JM, Delezoide AL, Guimiot F.

Prenat Diagn. 2012 Sep;32(9):906-8. doi: 10.1002/pd.3912. Epub 2012 Jun 5. No abstract available.

PMID:
22674768
45.

Prenatal diagnosis of a 7p15-p21 deletion encompassing the TWIST1 gene involved in Saethre-Chotzen syndrome.

Spaggiari E, Aboura A, Sinico M, Mabboux P, Dupont C, Delezoide AL, Guimiot F.

Eur J Med Genet. 2012 Aug-Sep;55(8-9):498-501. doi: 10.1016/j.ejmg.2012.04.006. Epub 2012 May 5.

PMID:
22569119
46.

Outcome of prenatally detected bilateral higher urinary tract obstruction or megacystis: sex-related study on a series of 709 cases.

Al-Hazmi H, Dreux S, Delezoide AL, Dommergues M, Lortat-Jacob S, Oury JF, El-Ghoneimi A, Muller F.

Prenat Diagn. 2012 Jul;32(7):649-54. doi: 10.1002/pd.3877. Epub 2012 Apr 30.

PMID:
22544566
47.

NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases.

El Hokayem J, Huber C, Couvé A, Aziza J, Baujat G, Bouvier R, Cavalcanti DP, Collins FA, Cordier MP, Delezoide AL, Gonzales M, Johnson D, Le Merrer M, Levy-Mozziconacci A, Loget P, Martin-Coignard D, Martinovic J, Mortier GR, Perez MJ, Roume J, Scarano G, Munnich A, Cormier-Daire V.

J Med Genet. 2012 Apr;49(4):227-33. doi: 10.1136/jmedgenet-2011-100717.

PMID:
22499340
48.

A dramatic fetal outcome following transplacental transfer of dasatinib.

Berveiller P, Andreoli A, Mir O, Anselem O, Delezoide AL, Sauvageon H, Chapuis N, Tsatsaris V.

Anticancer Drugs. 2012 Aug;23(7):754-7. doi: 10.1097/CAD.0b013e328352a8fe.

PMID:
22421368
49.

Lack of renal 11 beta-hydroxysteroid dehydrogenase type 2 at birth, a targeted temporal window for neonatal glucocorticoid action in human and mice.

Martinerie L, Pussard E, Meduri G, Delezoide AL, Boileau P, Lombès M.

PLoS One. 2012;7(2):e31949. doi: 10.1371/journal.pone.0031949. Epub 2012 Feb 16.

50.

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.

Brain. 2012 Feb;135(Pt 2):469-82. doi: 10.1093/brain/awr357. Epub 2012 Feb 9.

PMID:
22323514

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