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Items: 1 to 50 of 67

1.

RMND1 mutations in two siblings: Severe renal hypoplasia but different levels of extrarenal abnormality severity: The ethics of decision making.

Broenen E, Ranchin B, Besmond C, Freychet C, Fouilhoux A, Perouse de Montclos T, Ville D, Bacchetta J.

Arch Pediatr. 2019 Sep;26(6):377-380. doi: 10.1016/j.arcped.2019.08.004. Epub 2019 Sep 8.

PMID:
31506229
2.

De novo SCAMP5 mutation causes a neurodevelopmental disorder with autistic features and seizures.

Hubert L, Cannata Serio M, Villoing-Gaudé L, Boddaert N, Kaminska A, Rio M, Lyonnet S, Munnich A, Poirier K, Simons M, Besmond C.

J Med Genet. 2019 Aug 22. pii: jmedgenet-2018-105927. doi: 10.1136/jmedgenet-2018-105927. [Epub ahead of print]

PMID:
31439720
3.

Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder.

Munnich A, Demily C, Frugère L, Duwime C, Malan V, Barcia G, Vidal C, Throo E, Besmond C, Hubert L, Roland-Manuel G, Malen JP, Ferreri M, Hanein S, Thalabard JC, Boddaert N, Assouline M.

Mol Autism. 2019 Aug 7;10:33. doi: 10.1186/s13229-019-0284-2. eCollection 2019.

4.

Novel GABRA2 variants in epileptic encephalopathy and intellectual disability with seizures.

Maljevic S, Keren B, Aung YH, Forster IC, Mignot C, Buratti J, Lafitte A, Freihuber C, Rodan LH, Bergin A, Hubert L, Poirier K, Munnich A, Besmond C, Hauser N, Miller R, McWalter K, Nabbout R, Héron D, Leguern E, Depienne C, Petrou S, Nava C.

Brain. 2019 May 1;142(5):e15. doi: 10.1093/brain/awz079. No abstract available.

PMID:
31032849
5.

Corpus callosum metrics predict severity of visuospatial and neuromotor dysfuntions in ARID1B mutations with Coffin-Siris syndrome.

Demily C, Duwime C, Lopez C, Heminou C, Poisson A, Plasse J, Robert M, Dénier C, Rossi M, Franck N, Besmond C, Barcia G, Boddaert N, Munnich A, Vaivre-Douret L.

Psychiatr Genet. 2019 Mar 28. doi: 10.1097/YPG.0000000000000225. [Epub ahead of print]

PMID:
30933046
6.

TUBB1 mutations cause thyroid dysgenesis associated with abnormal platelet physiology.

Stoupa A, Adam F, Kariyawasam D, Strassel C, Gawade S, Szinnai G, Kauskot A, Lasne D, Janke C, Natarajan K, Schmitt A, Bole-Feysot C, Nitschke P, Léger J, Jabot-Hanin F, Tores F, Michel A, Munnich A, Besmond C, Scharfmann R, Lanza F, Borgel D, Polak M, Carré A.

EMBO Mol Med. 2018 Dec;10(12). pii: e9569. doi: 10.15252/emmm.201809569.

7.

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Mignot C, McMahon AC, Bar C, Campeau PM, Davidson C, Buratti J, Nava C, Jacquemont ML, Tallot M, Milh M, Edery P, Marzin P, Barcia G, Barnerias C, Besmond C, Bienvenu T, Bruel AL, Brunga L, Ceulemans B, Coubes C, Cristancho AG, Cunningham F, Dehouck MB, Donner EJ, Duban-Bedu B, Dubourg C, Gardella E, Gauthier J, Geneviève D, Gobin-Limballe S, Goldberg EM, Hagebeuk E, Hamdan FF, Hančárová M, Hubert L, Ioos C, Ichikawa S, Janssens S, Journel H, Kaminska A, Keren B, Koopmans M, Lacoste C, Laššuthová P, Lederer D, Lehalle D, Marjanovic D, Métreau J, Michaud JL, Miller K, Minassian BA, Morales J, Moutard ML, Munnich A, Ortiz-Gonzalez XR, Pinard JM, Prchalová D, Putoux A, Quelin C, Rosen AR, Roume J, Rossignol E, Simon MEH, Smol T, Shur N, Shelihan I, Štěrbová K, Vyhnálková E, Vilain C, Soblet J, Smits G, Yang SP, van der Smagt JJ, van Hasselt PM, van Kempen M, Weckhuysen S, Helbig I, Villard L, Héron D, Koeleman B, Møller RS, Lesca G, Helbig KL, Nabbout R, Verbeek NE, Depienne C.

Genet Med. 2019 Aug;21(8):1897-1898. doi: 10.1038/s41436-018-0327-7.

PMID:
30279470
8.

Mutations in TBR1 gene leads to cortical malformations and intellectual disability.

Vegas N, Cavallin M, Kleefstra T, de Boer L, Philbert M, Maillard C, Boddaert N, Munnich A, Hubert L, Bery A, Besmond C, Bahi-Buisson N.

Eur J Med Genet. 2018 Dec;61(12):759-764. doi: 10.1016/j.ejmg.2018.09.012. Epub 2018 Sep 27.

PMID:
30268909
9.

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Mignot C, McMahon AC, Bar C, Campeau PM, Davidson C, Buratti J, Nava C, Jacquemont ML, Tallot M, Milh M, Edery P, Marzin P, Barcia G, Barnerias C, Besmond C, Bienvenu T, Bruel AL, Brunga L, Ceulemans B, Coubes C, Cristancho AG, Cunningham F, Dehouck MB, Donner EJ, Duban-Bedu B, Dubourg C, Gardella E, Gauthier J, Geneviève D, Gobin-Limballe S, Goldberg EM, Hagebeuk E, Hamdan FF, Hančárová M, Hubert L, Ioos C, Ichikawa S, Janssens S, Journel H, Kaminska A, Keren B, Koopmans M, Lacoste C, Laššuthová P, Lederer D, Lehalle D, Marjanovic D, Métreau J, Michaud JL, Miller K, Minassian BA, Morales J, Moutard ML, Munnich A, Ortiz-Gonzalez XR, Pinard JM, Prchalová D, Putoux A, Quelin C, Rosen AR, Roume J, Rossignol E, Simon MEH, Smol T, Shur N, Shelihan I, Štěrbová K, Vyhnálková E, Vilain C, Soblet J, Smits G, Yang SP, van der Smagt JJ, van Hasselt PM, van Kempen M, Weckhuysen S, Helbig I, Villard L, Héron D, Koeleman B, Møller RS, Lesca G, Helbig KL, Nabbout R, Verbeek NE, Depienne C.

Genet Med. 2019 Apr;21(4):837-849. doi: 10.1038/s41436-018-0268-1. Epub 2018 Sep 12. Erratum in: Genet Med. 2018 Oct 2;:.

10.

High predictive value of brain MRI imaging in primary mitochondrial respiratory chain deficiency.

de Beaurepaire I, Grévent D, Rio M, Desguerre I, de Lonlay P, Levy R, Dangouloff-Ros V, Bonnefont JP, Barcia G, Funalot B, Besmond C, Metodiev MD, Ruzzenente B, Assouline Z, Munnich A, Rötig A, Boddaert N.

J Med Genet. 2018 Jun;55(6):378-383. doi: 10.1136/jmedgenet-2017-105094. Epub 2018 Jan 22.

PMID:
29358270
11.

A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations.

Palmer EE, Kumar R, Gordon CT, Shaw M, Hubert L, Carroll R, Rio M, Murray L, Leffler M, Dudding-Byth T, Oufadem M, Lalani SR, Lewis AM, Xia F, Tam A, Webster R, Brammah S, Filippini F, Pollard J, Spies J, Minoche AE, Cowley MJ, Risen S, Powell-Hamilton NN, Tusi JE, Immken L, Nagakura H, Bole-Feysot C, Nitschké P, Garrigue A, de Saint Basile G, Kivuva E; DDD Study, Scott RH, Rendon A, Munnich A, Newman W, Kerr B, Besmond C, Rosenfeld JA, Amiel J, Field M, Gecz J.

Am J Hum Genet. 2017 Dec 7;101(6):995-1005. doi: 10.1016/j.ajhg.2017.10.009. Epub 2017 Nov 30.

12.

Somatic mosaicism for SLC1A1 mutation supports threshold effect and familial aggregation in schizophrenia spectrum disorders.

Demily C, Hubert L, Franck N, Poisson A, Munnich A, Besmond C.

Schizophr Res. 2018 Jul;197:583-584. doi: 10.1016/j.schres.2017.11.028. Epub 2017 Nov 28. No abstract available.

PMID:
29195747
13.

Mutations in the novel gene FOPV are associated with familial autosomal dominant and non-familial obliterative portal venopathy.

Besmond C, Valla D, Hubert L, Poirier K, Grosse B, Guettier C, Bernard O, Gonzales E, Jacquemin E.

Liver Int. 2018 Feb;38(2):358-364. doi: 10.1111/liv.13547. Epub 2017 Sep 12.

PMID:
28792652
14.

CSNK2B splice site mutations in patients cause intellectual disability with or without myoclonic epilepsy.

Poirier K, Hubert L, Viot G, Rio M, Billuart P, Besmond C, Bienvenu T.

Hum Mutat. 2017 Aug;38(8):932-941. doi: 10.1002/humu.23270. Epub 2017 Jun 19.

PMID:
28585349
15.

Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies.

Xu M, Xie YA, Abouzeid H, Gordon CT, Fiorentino A, Sun Z, Lehman A, Osman IS, Dharmat R, Riveiro-Alvarez R, Bapst-Wicht L, Babino D, Arno G, Busetto V, Zhao L, Li H, Lopez-Martinez MA, Azevedo LF, Hubert L, Pontikos N, Eblimit A, Lorda-Sanchez I, Kheir V, Plagnol V, Oufadem M, Soens ZT, Yang L, Bole-Feysot C, Pfundt R, Allaman-Pillet N, Nitschké P, Cheetham ME, Lyonnet S, Agrawal SA, Li H, Pinton G, Michaelides M, Besmond C, Li Y, Yuan Z, von Lintig J, Webster AR, Le Hir H, Stoilov P; UK Inherited Retinal Dystrophy Consortium, Amiel J, Hardcastle AJ, Ayuso C, Sui R, Chen R, Allikmets R, Schorderet DF.

Am J Hum Genet. 2017 Apr 6;100(4):592-604. doi: 10.1016/j.ajhg.2017.02.008. Epub 2017 Mar 9.

16.

Mutations in BOREALIN cause thyroid dysgenesis.

Carré A, Stoupa A, Kariyawasam D, Gueriouz M, Ramond C, Monus T, Léger J, Gaujoux S, Sebag F, Glaser N, Zenaty D, Nitschke P, Bole-Feysot C, Hubert L, Lyonnet S, Scharfmann R, Munnich A, Besmond C, Taylor W, Polak M.

Hum Mol Genet. 2017 Feb 1;26(3):599-610. doi: 10.1093/hmg/ddw419.

17.

Mosaicism in ATP1A3-related disorders: not just a theoretical risk.

Hully M, Ropars J, Hubert L, Boddaert N, Rio M, Bernardelli M, Desguerre I, Cormier-Daire V, Munnich A, de Lonlay P, Reilly L, Besmond C, Bahi-Buisson N.

Neurogenetics. 2017 Jan;18(1):23-28. doi: 10.1007/s10048-016-0498-9. Epub 2016 Oct 10.

PMID:
27726050
18.

Recurrent KIF5C mutation leading to frontal pachygyria without microcephaly.

Cavallin M, Hubert L, Cantagrel V, Munnich A, Boddaert N, Vincent-Delorme C, Cuvellier JC, Masson C, Besmond C, Bahi-Buisson N.

Neurogenetics. 2016 Jan;17(1):79-82. doi: 10.1007/s10048-015-0459-8. Epub 2015 Sep 19. No abstract available.

PMID:
26384676
19.

Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy.

Metodiev MD, Gerber S, Hubert L, Delahodde A, Chretien D, Gérard X, Amati-Bonneau P, Giacomotto MC, Boddaert N, Kaminska A, Desguerre I, Amiel J, Rio M, Kaplan J, Munnich A, Rötig A, Rozet JM, Besmond C.

J Med Genet. 2014 Dec;51(12):834-8. doi: 10.1136/jmedgenet-2014-102532. Epub 2014 Oct 28.

PMID:
25351951
20.

Pathways systematically associated to Hirschsprung's disease.

Fernández RM, Bleda M, Luzón-Toro B, García-Alonso L, Arnold S, Sribudiani Y, Besmond C, Lantieri F, Doan B, Ceccherini I, Lyonnet S, Hofstra RM, Chakravarti A, Antiñolo G, Dopazo J, Borrego S.

Orphanet J Rare Dis. 2013 Dec 2;8:187. doi: 10.1186/1750-1172-8-187.

21.

Evaluation of methods for amplification of picogram amounts of total RNA for whole genome expression profiling.

Clément-Ziza M, Gentien D, Lyonnet S, Thiery JP, Besmond C, Decraene C.

BMC Genomics. 2009 May 26;10:246. doi: 10.1186/1471-2164-10-246.

22.

Stabilization of RNA during laser capture microdissection by performing experiments under argon atmosphere or using ethanol as a solvent in staining solutions.

Clément-Ziza M, Munnich A, Lyonnet S, Jaubert F, Besmond C.

RNA. 2008 Dec;14(12):2698-704. doi: 10.1261/rna.1261708. Epub 2008 Oct 22.

23.

Preparing and using M13-derived vectors.

Greenstein D, Besmond C.

Curr Protoc Mol Biol. 2001 May;Chapter 1:Unit1.15. doi: 10.1002/0471142727.mb0115s09.

PMID:
18265043
24.

Decreased expression of Intestinal I- and L-FABP levels in rare human genetic lipid malabsorption syndromes.

Guilmeau S, Niot I, Laigneau JP, Devaud H, Petit V, Brousse N, Bouvier R, Ferkdadji L, Besmond C, Aggerbeck LP, Bado A, Samson-Bouma ME.

Histochem Cell Biol. 2007 Aug;128(2):115-23. Epub 2007 Jun 29.

PMID:
17605029
25.

GeneRetriever: software to extract all genes and transcripts in between two genetic markers to assist design of human custom microarrays.

Clément-Ziza M, Brody Y, Munnich A, Lyonnet S, Besmond C.

Biotechniques. 2005 Aug;39(2):180, 182, 184. No abstract available.

26.

Exclusion of WNT4 as a major gene in Rokitansky-Küster-Hauser anomaly.

Clément-Ziza M, Khen N, Gonzales J, Crétolle-Vastel C, Picard JY, Tullio-Pelet A, Besmond C, Munnich A, Lyonnet S, Nihoul-Fékété C.

Am J Med Genet A. 2005 Aug 15;137(1):98-9. No abstract available.

PMID:
16007613
27.

Polymorphisms of the receptor of advanced glycation endproducts (RAGE) and the development of nephropathy in type 1 diabetic patients.

Prevost G, Fajardy I, Besmond C, Balkau B, Tichet J, Fontaine P, Danze PM, Marre M; Genediab and D.E.S.I.R studies.

Diabetes Metab. 2005 Feb;31(1):35-9.

PMID:
15803111
28.

Enhanced cloning efficiency of mouse bone marrow macrophage progenitors correlates with increased content of CSF-1 receptor of their progeny at low oxygen tension.

Flamant S, Lebastard M, Pescher P, Besmond C, Milon G, Marchal G.

Microbes Infect. 2003 Oct;5(12):1064-9.

PMID:
14554247
29.

Characterization of a putative type IV aminophospholipid transporter P-type ATPase.

Flamant S, Pescher P, Lemercier B, Clément-Ziza M, Képès F, Fellous M, Milon G, Marchal G, Besmond C.

Mamm Genome. 2003 Jan;14(1):21-30.

PMID:
12532265
30.

The Human Genome Revolution or Evolution?

Besmond C, Fellous M.

J Biomed Biotechnol. 2001;1(3):96. No abstract available.

31.

The mannose binding lectin gene influences the severity of chronic liver disease in cystic fibrosis.

Gabolde M, Hubert D, Guilloud-Bataille M, Lenaerts C, Feingold J, Besmond C.

J Med Genet. 2001 May;38(5):310-1.

32.

A simple approach to the characterization of three common Indian beta-thalassemia mutations by artificially created restriction sites.

Pawar AR, Lu CY, Besmond C, Gorakshakar AC, Colah RB, Mohanty D, Krishnamoorthy R.

Hemoglobin. 2000 Nov;24(4):311-8. No abstract available.

PMID:
11186261
33.

Human RAGE GLY82SER dimorphism and HLA class II DRB1-DQA1-DQB1 haplotypes in type 1 diabetes.

Prevost G, Fajardy I, Fontaine P, Danze PM, Besmond C.

Eur J Immunogenet. 1999 Oct;26(5):343-8.

PMID:
10553500
34.

Association of variant alleles of mannose binding lectin with severity of pulmonary disease in cystic fibrosis: cohort study.

Gabolde M, Guilloud-Bataille M, Feingold J, Besmond C.

BMJ. 1999 Oct 30;319(7218):1166-7. No abstract available.

35.

Genetic polymorphism of the mannose-binding protein gene in children with sickle cell disease: identification of three new variant alleles and relationship to infections.

Neonato MG, Lu CY, Guilloud-Bataille M, Lapouméroulie C, Nabeel-Jassim H, Dabit D, Girot R, Krishnamoorthy R, Feingold J, Besmond C, Elion J.

Eur J Hum Genet. 1999 Sep;7(6):679-86.

36.
37.

Evaluation of parental mitochondrial inheritance in neonates born after intracytoplasmic sperm injection.

Danan C, Sternberg D, Van Steirteghem A, Cazeneuve C, Duquesnoy P, Besmond C, Goossens M, Lissens W, Amselem S.

Am J Hum Genet. 1999 Aug;65(2):463-73.

38.

Potential of denaturing gradient gel electrophoresis for scanning of beta-thalassemia mutations in India.

Gorakshakar AC, Pawar AR, Nadkarni AH, Lu CY, Mohanty D, Krishnamoorthy R, Besmond C, Colah RB.

Am J Hematol. 1999 Jun;61(2):120-5.

39.

Polymorphism in exon 10 of the human coagulation factor V gene in a population at risk for sickle cell disease.

Helley D, Besmond C, Ducrocq R, da Silva F, Guillin MC, Bezeaud A, Elion J.

Hum Genet. 1997 Aug;100(2):245-8.

PMID:
9254858
40.

Molecular analysis of the insulin receptor gene for prenatal diagnosis of leprechaunism in two families.

Desbois-Mouthon C, Girodon E, Ghanem N, Caron M, Pennerath A, Conteville P, Magre J, Besmond C, Goossens M, Capeau J, Amselem S.

Prenat Diagn. 1997 Jul;17(7):657-63.

PMID:
9249867
41.
42.

Severe resistance to insulin and insulin-like growth factor-I in cells from a patient with leprechaunism as a result of two mutations in the tyrosine kinase domain of the insulin receptor.

Desbois-Mouthon C, Danan C, Amselem S, Blivet-Van Eggelpoel MJ, Sert-Langeron C, Goossens M, Besmond C, Capeau J, Caron M.

Metabolism. 1996 Dec;45(12):1493-500.

PMID:
8969282
43.

Deletion of Asn281 in the alpha-subunit of the human insulin receptor causes constitutive activation of the receptor and insulin desensitization.

Desbois-Mouthon C, Sert-Langeron C, Magre J, Oreal E, Blivet MJ, Flori E, Besmond C, Capeau J, Caron M.

J Clin Endocrinol Metab. 1996 Feb;81(2):719-27.

PMID:
8636294
44.

A novel mutation in exon 17 of the beta-subunit of rod phosphodiesterase in two RP sisters of a consanguineous family.

Valverde D, Solans T, Grinberg D, Balcells S, Vilageliu L, Bayés M, Chivelet P, Besmond C, Goossens M, González-Duarte R, Baiget M.

Hum Genet. 1996 Jan;97(1):35-8.

PMID:
8557257
45.

Spectrum of germline mutations in the RB1 gene: a study of 232 patients with hereditary and non hereditary retinoblastoma.

Blanquet V, Turleau C, Gross-Morand MS, Sénamaud-Beaufort C, Doz F, Besmond C.

Hum Mol Genet. 1995 Mar;4(3):383-8.

PMID:
7795591
46.

Lipoatrophic diabetes: genetic exclusion of the insulin receptor gene.

Desbois-Mouthon C, Magré J, Amselem S, Reynet C, Blivet MJ, Goossens M, Capeau J, Besmond C.

J Clin Endocrinol Metab. 1995 Jan;80(1):314-9.

PMID:
7829633
47.

Three novel germline mutations in exons 8 and 18 of the retinoblastoma gene.

Blanquet V, Gross MS, Turleau C, Sénamaud-Beaufort C, Doz F, Besmond C.

Hum Mol Genet. 1994 Jul;3(7):1185-6. No abstract available.

PMID:
7981694
48.

A powerful method for in vitro selection of normal versus cystic fibrosis airway epithelial cells.

Vega MA, Goossens M, Besmond C.

Gene Ther. 1994 Jan;1(1):59-63.

PMID:
7584061
49.
50.

Detection of sequence variations in the human insulin-receptor gene by parallel denaturing gradient gel electrophoresis.

Desbois C, Magré J, Blanquet V, Capeau J, Goossens M, Besmond C.

Hum Mutat. 1993;2(5):395-403.

PMID:
8257993

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