PubMed

[Iodine 125 prostate brachytherapy: Prognostic factors for long-term urinary, digestive and sexual toxicities.]

Doyen J, Chamorey E, Mohammed Ali A, Ginot A, Ferre M, Castelli J, Quintens H, Amiel J, Hannoun-Lévi JM.

Cancer Radiother. 2009 Oct 31. [Epub ahead of print] French. PMID: 19884031 [PubMed - as supplied by publisher]Related articles

CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation.

Mougou-Zerelli S, Thomas S, Szenker E, Audollent S, Elkhartoufi N, Babarit C, Romano S, Salomon R, Amiel J, Esculpavit C, Gonzales M, Escudier E, Leheup B, Loget P, Odent S, Roume J, Gérard M, Delezoide AL, Khung S, Patrier S, Cordier MP, Bouvier R, Martinovic J, Gubler MC, Boddaert N, Munnich A, Encha-Razavi F, Valente EM, Saad A, Saunier S, Vekemans M, Attié-Bitach T.

Hum Mutat. 2009 Nov;30(11):1574-82.PMID: 19777577 [PubMed - in process]Related articles

Cholinergic switch associated with morphological differentiation in neuroblastoma.

Bourdeaut F, Janoueix-Lerosey I, Lucchesi C, Paris R, Ribeiro A, de Pontual L, Amiel J, Lyonnet S, Pierron G, Michon J, Peuchmaur M, Delattre O.

J Pathol. 2009 Dec;219(4):463-72.PMID: 19768740 [PubMed - in process]Related articles

PHOX2B in respiratory control: lessons from congenital central hypoventilation syndrome and its mouse models.

Amiel J, Dubreuil V, Ramanantsoa N, Fortin G, Gallego J, Brunet JF, Goridis C.

Respir Physiol Neurobiol. 2009 Aug 31;168(1-2):125-32. Epub 2009 Mar 21.PMID: 19712905 [PubMed - in process]Related articles

Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease.

de Pontual L, Zaghloul NA, Thomas S, Davis EE, McGaughey DM, Dollfus H, Baumann C, Bessling SL, Babarit C, Pelet A, Gascue C, Beales P, Munnich A, Lyonnet S, Etchevers H, Attie-Bitach T, Badano JL, McCallion AS, Katsanis N, Amiel J.

Proc Natl Acad Sci U S A. 2009 Aug 18;106(33):13921-6. Epub 2009 Jul 31.PMID: 19666486 [PubMed - indexed for MEDLINE]Related articles

Hypertelorism-microtia-clefting syndrome (HMC syndrome): prenatal diagnosis in two siblings.

Ghoumid J, Ansart-Franquet H, Subtil D, Pasz N, Devisme L, Amiel J, Andrieux J, Manouvrier-Hanu S, Holder-Espinasse M.

Prenat Diagn. 2009 Nov;29(11):1064-5. No abstract available. PMID: 19650062 [PubMed - in process]Related articles

[Histological orchiepididymitis discovery in a patient with AIDS]

Arnaud P, Demey A, Vandenbos F, Colomb F, Michiels JF, Amiel J.

Prog Urol. 2009 Jun;19(6):439-41. Epub 2009 May 9. French. PMID: 19467466 [PubMed - indexed for MEDLINE]Related articles

Interaction between a chromosome 10 RET enhancer and chromosome 21 in the Down syndrome-Hirschsprung disease association.

Arnold S, Pelet A, Amiel J, Borrego S, Hofstra R, Tam P, Ceccherini I, Lyonnet S, Sherman S, Chakravarti A.

Hum Mutat. 2009 May;30(5):771-5.PMID: 19306335 [PubMed - indexed for MEDLINE]Related articles

Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome.

de Pontual L, Mathieu Y, Golzio C, Rio M, Malan V, Boddaert N, Soufflet C, Picard C, Durandy A, Dobbie A, Heron D, Isidor B, Motte J, Newburry-Ecob R, Pasquier L, Tardieu M, Viot G, Jaubert F, Munnich A, Colleaux L, Vekemans M, Etchevers H, Lyonnet S, Amiel J.

Hum Mutat. 2009 Apr;30(4):669-76.PMID: 19235238 [PubMed - indexed for MEDLINE]Related articles

Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence.

Benko S, Fantes JA, Amiel J, Kleinjan DJ, Thomas S, Ramsay J, Jamshidi N, Essafi A, Heaney S, Gordon CT, McBride D, Golzio C, Fisher M, Perry P, Abadie V, Ayuso C, Holder-Espinasse M, Kilpatrick N, Lees MM, Picard A, Temple IK, Thomas P, Vazquez MP, Vekemans M, Crollius HR, Hastie ND, Munnich A, Etchevers HC, Pelet A, Farlie PG, Fitzpatrick DR, Lyonnet S.

Nat Genet. 2009 Mar;41(3):359-64. Epub 2009 Feb 22.PMID: 19234473 [PubMed - indexed for MEDLINE]Related articles

A pilot study of the effects of chronic paroxetine administration on hippocampal N-acetylaspartate in generalized anxiety disorder.

Mathew S, Price R, Shungu D, Mao X, Smith E, Amiel J, Coplan J.

J Psychopharmacol. 2009 Feb 9. [Epub ahead of print]PMID: 19204062 [PubMed - as supplied by publisher]Related articles

[State of the art and advances in radiotherapy for bladder cancer]

Thariat J, Caullery M, Ginot A, Hannoun-Lévi JM, Barrière J, Buthaud X, Marcié S, Bondiau PY, Housset M, Lagrange JL, Amiel J, Gérard JP.

Prog Urol. 2009 Feb;19(2):85-93. Epub 2008 Dec 16. French. PMID: 19168010 [PubMed - indexed for MEDLINE]Related articles

In Vitro studies of non poly alanine PHOX2B mutations argue against a loss-of-function mechanism for congenital central hypoventilation.

Trochet D, Mathieu Y, Pontual L, Savarirayan R, Munnich A, Brunet JF, Lyonnet S, Goridis C, Amiel J.

Hum Mutat. 2009 Feb;30(2):E421-31.PMID: 19058226 [PubMed - indexed for MEDLINE]Related articles

Sporadic case of unusual facies, cerebral vascular anomalies and developmental delay.

Bertoli M, Boddaert N, Raoul O, Amiel J, Lyonnet S.

Clin Dysmorphol. 2009 Apr;18(2):110-1. No abstract available. PMID: 19057380 [PubMed - indexed for MEDLINE]Related articles

[Transvaginal repair of genital prolapse with Prolift: evaluation of safety and learning curve]

Bafghi A, Iannelli A, Verger S, Novelas S, Amiel J, Gugenheim J, Bongain A.

J Gynecol Obstet Biol Reprod (Paris). 2009 Feb;38(1):77-82. Epub 2008 Nov 25. French. PMID: 19036533 [PubMed - indexed for MEDLINE]Related articles

[Fulminant myocarditis: clinical value of extracorporeal life support]

Bellec F, Amiel JB, Le Guyader A, Cassat C, François B.

Ann Fr Anesth Reanim. 2008 Nov;27(11):953-6. Epub 2008 Nov 13. French. PMID: 19013051 [PubMed - indexed for MEDLINE]Related articles

Somatic and germline activating mutations of the ALK kinase receptor in neuroblastoma.

Janoueix-Lerosey I, Lequin D, Brugières L, Ribeiro A, de Pontual L, Combaret V, Raynal V, Puisieux A, Schleiermacher G, Pierron G, Valteau-Couanet D, Frebourg T, Michon J, Lyonnet S, Amiel J, Delattre O.

Nature. 2008 Oct 16;455(7215):967-70.PMID: 18923523 [PubMed - indexed for MEDLINE]Related articles

Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance.

Clayton-Smith J, Walters S, Hobson E, Burkitt-Wright E, Smith R, Toutain A, Amiel J, Lyonnet S, Mansour S, Fitzpatrick D, Ciccone R, Ricca I, Zuffardi O, Donnai D.

Eur J Hum Genet. 2009 Apr;17(4):434-43. Epub 2008 Oct 15.PMID: 18854860 [PubMed - indexed for MEDLINE]Related articles

Addressing cardiometabolic risk during treatment with antipsychotic medications.

Amiel JM, Mangurian CV, Ganguli R, Newcomer JW.

Curr Opin Psychiatry. 2008 Nov;21(6):613-8. Review.PMID: 18852570 [PubMed - indexed for MEDLINE]Related articlesFree article

Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations.

Bahi-Buisson N, Poirier K, Boddaert N, Saillour Y, Castelnau L, Philip N, Buyse G, Villard L, Joriot S, Marret S, Bourgeois M, Van Esch H, Lagae L, Amiel J, Hertz-Pannier L, Roubertie A, Rivier F, Pinard JM, Beldjord C, Chelly J.

J Med Genet. 2008 Oct;45(10):647-53. Epub 2008 Aug 26.PMID: 18728072 [PubMed - indexed for MEDLINE]Related articles

Delineation of late onset hypoventilation associated with hypothalamic dysfunction syndrome.

De Pontual L, Trochet D, Caillat-Zucman S, Abou Shenab OA, Bougneres P, Crow Y, Cunningham S, Esteva B, Heberle LC, Leger J, Pinto G, Polak M, Shafik MH, Straus C, Trang H, Munnich A, Lyonnet S, Desguerre I, Amiel J.

Pediatr Res. 2008 Dec;64(6):689-94.PMID: 18670370 [PubMed - indexed for MEDLINE]Related articles

[Characteristics of encrustation of ureteric stents in patients with urinary stones.]

Bouzidi H, Traxer O, Doré B, Amiel J, Hadjadj H, Conort P, Daudon M.

Prog Urol. 2008 Apr;18(4):230-7. Epub 2008 Apr 10. French. PMID: 18501303 [PubMed - indexed for MEDLINE]Related articles

Detection of the TMPRSS2-ETS fusion gene in prostate carcinomas: retrospective analysis of 55 formalin-fixed and paraffin-embedded samples with clinical data.

Rouzier C, Haudebourg J, Carpentier X, Valério L, Amiel J, Michiels JF, Pedeutour F.

Cancer Genet Cytogenet. 2008 May;183(1):21-7.PMID: 18474293 [PubMed - indexed for MEDLINE]Related articles

Spectrum of HLXB9 gene mutations in Currarino syndrome and genotype-phenotype correlation.

Crétolle C, Pelet A, Sanlaville D, Zérah M, Amiel J, Jaubert F, Révillon Y, Baala L, Munnich A, Nihoul-Fékété C, Lyonnet S.

Hum Mutat. 2008 Jul;29(7):903-10.PMID: 18449898 [PubMed - indexed for MEDLINE]Related articles

Homozygous mutation of the PHOX2B gene in congenital central hypoventilation syndrome (Ondine's Curse).

Trochet D, de Pontual L, Estêvao MH, Mathieu Y, Munnich A, Feingold J, Goridis C, Lyonnet S, Amiel J.

Hum Mutat. 2008 May;29(5):770.PMID: 18407552 [PubMed - indexed for MEDLINE]Related articles

A human mutation in Phox2b causes lack of CO2 chemosensitivity, fatal central apnea, and specific loss of parafacial neurons.

Dubreuil V, Ramanantsoa N, Trochet D, Vaubourg V, Amiel J, Gallego J, Brunet JF, Goridis C.

Proc Natl Acad Sci U S A. 2008 Jan 22;105(3):1067-72. Epub 2008 Jan 15.PMID: 18198276 [PubMed - indexed for MEDLINE]Related articlesFree article

PHOX2B germline and somatic mutations in late-onset central hypoventilation syndrome.

Trochet D, de Pontual L, Straus C, Gozal D, Trang H, Landrieu P, Munnich A, Lyonnet S, Gaultier C, Amiel J.

Am J Respir Crit Care Med. 2008 Apr 15;177(8):906-11. Epub 2007 Dec 13.PMID: 18079495 [PubMed - indexed for MEDLINE]Related articlesFree article

Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4.

Bondurand N, Dastot-Le Moal F, Stanchina L, Collot N, Baral V, Marlin S, Attie-Bitach T, Giurgea I, Skopinski L, Reardon W, Toutain A, Sarda P, Echaieb A, Lackmy-Port-Lis M, Touraine R, Amiel J, Goossens M, Pingault V.

Am J Hum Genet. 2007 Dec;81(6):1169-85. Epub 2007 Oct 22.PMID: 17999358 [PubMed - indexed for MEDLINE]Related articlesFree article

Hirschsprung disease, associated syndromes and genetics: a review.

Amiel J, Sproat-Emison E, Garcia-Barcelo M, Lantieri F, Burzynski G, Borrego S, Pelet A, Arnold S, Miao X, Griseri P, Brooks AS, Antinolo G, de Pontual L, Clement-Ziza M, Munnich A, Kashuk C, West K, Wong KK, Lyonnet S, Chakravarti A, Tam PK, Ceccherini I, Hofstra RM, Fernandez R; Hirschsprung Disease Consortium.

J Med Genet. 2008 Jan;45(1):1-14. Epub 2007 Oct 26. Review.PMID: 17965226 [PubMed - indexed for MEDLINE]Related articles

Glutamate and anxiety disorders.

Amiel JM, Mathew SJ.

Curr Psychiatry Rep. 2007 Aug;9(4):278-83. Review.PMID: 17880858 [PubMed - indexed for MEDLINE]Related articles

Methylation-associated PHOX2B gene silencing is a rare event in human neuroblastoma.

de Pontual L, Trochet D, Bourdeaut F, Thomas S, Etchevers H, Chompret A, Minard V, Valteau D, Brugieres L, Munnich A, Delattre O, Lyonnet S, Janoueix-Lerosey I, Amiel J.

Eur J Cancer. 2007 Nov;43(16):2366-72. Epub 2007 Aug 31.PMID: 17765533 [PubMed - indexed for MEDLINE]Related articles

Polymorphic length of FOXE1 alanine stretch: evidence for genetic susceptibility to thyroid dysgenesis.

Carré A, Castanet M, Sura-Trueba S, Szinnai G, Van Vliet G, Trochet D, Amiel J, Léger J, Czernichow P, Scotet V, Polak M.

Hum Genet. 2007 Dec;122(5):467-76. Epub 2007 Aug 24.PMID: 17717707 [PubMed - indexed for MEDLINE]Related articles

Kabuki syndrome and neonatal cholestasis: report of a new case and review of the literature.

Isidor B, Rio M, Mourier O, Habes D, Amiel J, Jacquemin E.

J Pediatr Gastroenterol Nutr. 2007 Aug;45(2):261-4. Review. No abstract available. PMID: 17667726 [PubMed - indexed for MEDLINE]Related articles

Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability.

Delahaye A, Sznajer Y, Lyonnet S, Elmaleh-Bergès M, Delpierre I, Audollent S, Wiener-Vacher S, Mansbach AL, Amiel J, Baumann C, Bremond-Gignac D, Attié-Bitach T, Verloes A, Sanlaville D.

Clin Genet. 2007 Aug;72(2):112-21.PMID: 17661815 [PubMed - indexed for MEDLINE]Related articles

Congenital pontocerebellar atrophy and telencephalic defects in three siblings: a new subtype.

Leroy JG, Lyon G, Fallet C, Amiel J, De Praeter C, Van Den Broecke C, Vanhaesebrouck P.

Acta Neuropathol. 2007 Oct;114(4):387-99. Epub 2007 Jul 13.PMID: 17628812 [PubMed - indexed for MEDLINE]Related articles

Efficacy of and tolerance to mild induced hypothermia after out-of-hospital cardiac arrest using an endovascular cooling system.

Pichon N, Amiel JB, François B, Dugard A, Etchecopar C, Vignon P.

Crit Care. 2007;11(3):R71.PMID: 17598898 [PubMed - indexed for MEDLINE]Related articlesFree article

Polyalanine expansions might not result from unequal crossing-over.

Trochet D, de Pontual L, Keren B, Munnich A, Vekemans M, Lyonnet S, Amiel J.

Hum Mutat. 2007 Oct;28(10):1043-4. No abstract available. PMID: 17559084 [PubMed - indexed for MEDLINE]Related articles

An overview of isolated and syndromic oesophageal atresia.

Geneviève D, de Pontual L, Amiel J, Sarnacki S, Lyonnet S.

Clin Genet. 2007 May;71(5):392-9. Review.PMID: 17489843 [PubMed - indexed for MEDLINE]Related articles

Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction.

Amiel J, Rio M, de Pontual L, Redon R, Malan V, Boddaert N, Plouin P, Carter NP, Lyonnet S, Munnich A, Colleaux L.

Am J Hum Genet. 2007 May;80(5):988-93. Epub 2007 Mar 23.PMID: 17436254 [PubMed - indexed for MEDLINE]Related articlesFree article

[Genetic and molecular bases of neurocristopathies]

Etchevers HC, Amiel J, Lyonnet S.

Arch Pediatr. 2007 Jun;14(6):668-72. Epub 2007 Apr 16. French. No abstract available. PMID: 17434298 [PubMed - indexed for MEDLINE]Related articles

Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease.

de Pontual L, Pelet A, Clement-Ziza M, Trochet D, Antonarakis SE, Attie-Bitach T, Beales PL, Blouin JL, Dastot-Le Moal F, Dollfus H, Goossens M, Katsanis N, Touraine R, Feingold J, Munnich A, Lyonnet S, Amiel J.

Hum Mutat. 2007 Aug;28(8):790-6.PMID: 17397038 [PubMed - indexed for MEDLINE]Related articles

[The treatments of localized prostate cancer: the impact on sexuality]

Chevallier D, Amiel J.

Ann Urol (Paris). 2006 Dec;40 Suppl 2:S53-6. Review. French. PMID: 17361922 [PubMed - indexed for MEDLINE]Related articles

Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis.

Baala L, Briault S, Etchevers HC, Laumonnier F, Natiq A, Amiel J, Boddaert N, Picard C, Sbiti A, Asermouh A, Attié-Bitach T, Encha-Razavi F, Munnich A, Sefiani A, Lyonnet S.

Nat Genet. 2007 Apr;39(4):454-6. Epub 2007 Mar 11.PMID: 17353897 [PubMed - indexed for MEDLINE]Related articles

Currarino syndrome shown by prenatal onset ventriculomegaly and spinal dysraphism.

Crétolle C, Sarnacki S, Amiel J, Geneviève D, Encha-Razavi F, Zrelli S, Zérah M, Nihoul Fékété C, Lyonnet S.

Am J Med Genet A. 2007 Apr 15;143A(8):871-4.PMID: 17352395 [PubMed - indexed for MEDLINE]Related articles

Molecular bases of human neurocristopathies.

Etchevers HC, Amiel J, Lyonnet S.

Adv Exp Med Biol. 2006;589:213-34. Review. No abstract available. PMID: 17076285 [PubMed - indexed for MEDLINE]Related articles

Laparoscopic seminal vesicle and pelvic lymph node resection before high-dose three-dimensional conformal radiation therapy for localized prostate cancer. Results of a dosimetric study.

Hannoun-Levi JM, Quintens H, Loeffler J, Valino P, Amiel J, Marcie S.

Strahlenther Onkol. 2006 Oct;182(10):616-21.PMID: 17013576 [PubMed - indexed for MEDLINE]Related articles

Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders.

Jacquemont ML, Sanlaville D, Redon R, Raoul O, Cormier-Daire V, Lyonnet S, Amiel J, Le Merrer M, Heron D, de Blois MC, Prieur M, Vekemans M, Carter NP, Munnich A, Colleaux L, Philippe A.

J Med Genet. 2006 Nov;43(11):843-9. Epub 2006 Jul 13.PMID: 16840569 [PubMed - indexed for MEDLINE]Related articlesFree article

Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome.

Kleefstra T, Brunner HG, Amiel J, Oudakker AR, Nillesen WM, Magee A, Geneviève D, Cormier-Daire V, van Esch H, Fryns JP, Hamel BC, Sistermans EA, de Vries BB, van Bokhoven H.

Am J Hum Genet. 2006 Aug;79(2):370-7. Epub 2006 Jun 13.PMID: 16826528 [PubMed - indexed for MEDLINE]Related articlesFree article

[Is intracavernosal corticosteroid infiltration really useless in Peyronie's disease?]

Demey A, Chevallier D, Bondil P, Toubol J, Amiel J.

Prog Urol. 2006 Feb;16(1):52-7. French. PMID: 16526540 [PubMed - indexed for MEDLINE]Related articles

Mutations of the RET gene in isolated and syndromic Hirschsprung's disease in human disclose major and modifier alleles at a single locus.

de Pontual L, Pelet A, Trochet D, Jaubert F, Espinosa-Parrilla Y, Munnich A, Brunet JF, Goridis C, Feingold J, Lyonnet S, Amiel J.

J Med Genet. 2006 May;43(5):419-23. Epub 2006 Jan 27.PMID: 16443855 [PubMed - indexed for MEDLINE]Related articlesFree article