Publications 2004

Plan d’action pour les maladies rares (document au format pdf)

 1 Amiel J, Trochet D, Clement-Ziza M, Munnich A, Lyonnet S. Polyalanine expansions in human. Hum Mol Genet 2004; 13 Spec No 2:R235-43.:R235-R243.

 2 Armstrong L, Moneim AA, Aleck K, Aughton DJ, Baumann C, Braddock SR, Gillessen-Kaesbach G, Graham JM, Jr., Grebe TA, Gripp KW, Hall BD, Hennekam R, Hunter A, Keppler-Noreuil K, Lacombe D, Lin AE, Ming JE, Kokitsu-Nakata NM, Nikkel SM, Philip N, Raas-Rothschild A, Sommer A, Verloes A, Walter C, Wieczorek D, Williams MS, Zackai E, Allanson JE. Further delineation of Kabuki syndrome in 48 well-defined new individuals. Am J Med Genet A 2004; 132A(3):265-272.

 3 Bartels CF, Bukulmez H, Padayatti P, Rhee DK, Ravenswaaij-Arts C, Pauli RM, Mundlos S, Chitayat D, Shih LY, Al Gazali LI, Kant S, Cole T, Morton J, Cormier-Daire V, Faivre L, Lees M, Kirk J, Mortier GR, Leroy J, Zabel B, Kim CA, Crow Y, Braverman NE, van den AF, Warman ML. Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux. Am J Hum Genet 2004; 75(1):27-34.

 4 Baujat G, Rio M, Rossignol S, Sanlaville D, Lyonnet S, Le Merrer M, Munnich A, Gicquel C, Cormier-Daire V, Colleaux L. Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome. Am J Hum Genet 2004; 74(4):715-720.

 5 Benit P, Slama A, Cartault F, Giurgea I, Chretien D, Lebon S, Marsac C, Munnich A, Rotig A, Rustin P. Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome. J Med Genet 2004; 41(1):14-17.

 6 Bernard F, Picard C, Cormier-Daire V, Eidenschenk C, Pinto G, Bustamante JC, Jouanguy E, Teillac-Hamel D, Colomb V, Funck-Brentano I, Pascal V, Vivier E, Fischer A, Le Deist F, Casanova JL. A novel developmental and immunodeficiency syndrome associated with intrauterine growth retardation and a lack of natural killer cells. Pediatrics 2004; 113(1 Pt 1):136-141.

 7 Blons H, Feldmann D, Duval V, Messaz O, Denoyelle F, Loundon N, Sergout-Allaoui A, Houang M, Duriez F, Lacombe D, Delobel B, Leman J, Catros H, Journel H, Drouin-Garraud V, Obstoy MF, Toutain A, Oden S, Toublanc JE, Couderc R, Petit C, Garabedian EN, Marlin S. Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity. Clin Genet 2004; 66(4):333-340.

 8 Boddaert N, De Leersnyder H, Bourgeois M, Munnich A, Brunelle F, Zilbovicius M. Anatomical and functional brain imaging evidence of lenticulo-insular anomalies in Smith Magenis syndrome. Neuroimage 2004; 21(3):1021-1025.

 9 Bonnefont JP, Djouadi F, Prip-Buus C, Gobin S, Munnich A, Bastin J. Carnitine palmitoyltransferases 1 and 2: biochemical, molecular and medical aspects. Mol Aspects Med 2004; 25(5-6):495-520.

 10  Chantot-Bastaraud S, Muti C, Pipiras E, Routon MC, Roubergue A, Burglen L, Siffroi JP, Simon-Bouy B. Clinical findings and cytogenetic analysis of small supernumerary ring chromosomes 7: report of two new cases. Ann Genet 2004; 47(3):241-249.

 11  Charron P, Heron D, Gargiulo M, Feingold J, Oury JF, Richard P, Komajda M. Prenatal molecular diagnosis in hypertrophic cardiomyopathy: report of the first case. Prenat Diagn 2004; 24(9):701-703.

 12  Chretien D, Slama A, Briere JJ, Munnich A, Rotig A, Rustin P. Revisiting pitfalls, problems and tentative solutions for assaying mitochondrial respiratory chain complex III in human samples. Curr Med Chem 2004; 11(2):233-239.

 13  Clermont O, Burlet P, Benit P, Chanterau D, Saugier-Veber P, Munnich A, Cusin V. Molecular analysis of SMA patients without homozygous SMN1 deletions using a new strategy for identification of SMN1 subtle mutations. Hum Mutat 2004; 24(5):417-427.

 14  Cormier-Daire V, Genevieve D, Munnich A, Le Merrer M. New insights in congenital bowing of the femora. Clin Genet 2004; 66(3):169-176.

 15  Dagoneau N, Benoist-Lasselin C, Huber C, Faivre L, Megarbane A, Alswaid A, Dollfus H, Alembik Y, Munnich A, Legeai-Mallet L, Cormier-Daire V. ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome. Am J Hum Genet 2004; 75(5):801-806.

 16  Dagoneau N, Scheffer D, Huber C, Al Gazali LI, Di Rocco M, Godard A, Martinovic J, Raas-Rothschild A, Sigaudy S, Unger S, Nicole S, Fontaine B, Taupin JL, Moreau JF, Superti-Furga A, Le Merrer M, Bonaventure J, Munnich A, Legeai-Mallet L, Cormier-Daire V. Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome. Am J Hum Genet 2004; 74(2):298-305.

 17  Denavit TM, Malan V, Grillon C, Sanlaville D, Ardalan A, Jacquemont ML, Burglen L, Taillemite JL, Portnoi MF. A new case of a severe clinical phenotype of the cat-eye syndrome. Genet Couns 2004; 15(4):443-448.

 18  Dollfus H, Verloes A. Dysmorphology and the orbital region: a practical clinical approach. Surv Ophthalmol 2004; 49(6):547-561.

 19  Espinosa-Parrilla Y, Encha-Razavi F, Attie-Bitach T, Martinovic J, Morichon-Delvallez N, Munnich A, Vekemans M, Lyonnet S, Amiel J. Molecular screening of the ZFHX1B gene in prenatally diagnosed isolated agenesis of the corpus callosum. Prenat Diagn 2004; 24(4):298-301.

 20  Faivre L, Le Merrer M, Zerres K, Ben Hariz M, Scheffer D, Young ID, Maroteaux P, Munnich A, Cormier-Daire V. Clinical and genetic heterogeneity in Desbuquois dysplasia. Am J Med Genet A 2004; 128(1):29-32.

 21  Faivre L, Cormier-Daire V, Young I, Bracq H, Finidori G, Padovani JP, Odent S, Lachman R, Munnich A, Maroteaux P, Le Merrer M. Long-term outcome in Desbuquois dysplasia: a follow-up in four adult patients. Am J Med Genet A 2004; 124(1):54-59.

 22  Faivre L, Cormier-Daire V, Eliott AM, Field F, Munnich A, Maroteaux P, Le Merrer M, Lachman R. Desbuquois dysplasia, a reevaluation with abnormal and "normal" hands: radiographic manifestations. Am J Med Genet A 2004; 124(1):48-53.

 23  Feldmann D, Denoyelle F, Chauvin P, Garabedian EN, Couderc R, Odent S, Joannard A, Schmerber S, Delobel B, Leman J, Journel H, Catros H, Le Marechal C, Dollfus H, Eliot MM, Delaunoy JP, David A, Calais C, Drouin-Garraud V, Obstoy MF, Bouccara D, Sterkers O, Huy PT, Goizet C, Duriez F, Fellmann F, Helias J, Vigneron J, Montaut B, Lewin P, Petit C, Marlin S. Large deletion of the GJB6 gene in deaf patients heterozygous for the GJB2 gene mutation: genotypic and phenotypic analysis. Am J Med Genet 2004; 127A(3):263-267.

 24  Feldmann D, Denoyelle F, Loundon N, Weil D, Garabedian EN, Couderc R, Joannard A, Schmerber S, Delobel B, Leman J, Journel H, Catros H, Ferrec C, Drouin-Garraud V, Obstoy MF, Moati L, Petit C, Marlin S. Clinical evidence of the nonpathogenic nature of the M34T variant in the connexin 26 gene. Eur J Hum Genet 2004; 12(4):279-284.

 25  Gaultier C, Amiel J, Dauger S, Trang H, Lyonnet S, Gallego J, Simonneau M. Genetics and early disturbances of breathing control. Pediatr Res 2004; 55(5):729-733.

 26  Genevieve D, Amiel J, Viot G, Le Merrer M, Sanlaville D, Urtizberea A, Gerard M, Munnich A, Cormier-Daire V, Lyonnet S. Atypical findings in Kabuki syndrome: report of 8 patients in a series of 20 and review of the literature. Am J Med Genet A 2004; 129(1):64-68.

 27  Gerard-Blanluet M, Romana S, Munier C, Le Lorc'h M, Kanafani S, Sinico M, Touboul C, Levaillant JM, Haddad B, Lopez N, Lelong F, De Villemeur TB, Verloes A, Borghi E. Classical West "syndrome" phenotype with a subtelomeric 4p trisomy. Am J Med Genet A 2004; 130A(3):299-302.

 28  Ghozlan A, Munnich A. [MAOB: a modifier gene in phenylketonuria?]. Med Sci (Paris) 2004; 20(10):929-932.

 29  Gigarel N, Frydman N, Burlet P, Kerbrat V, Steffann J, Frydman R, Munnich A, Ray PF. Single cell co-amplification of polymorphic markers for the indirect preimplantation genetic diagnosis of hemophilia A, X-linked adrenoleukodystrophy, X-linked hydrocephalus and incontinentia pigmenti loci on Xq28. Hum Genet 2004; 114(3):298-305.

 30  Gigarel N, Ray PF, Burlet P, Frydman N, Royer G, Lebon S, Bonnefont JP, Frydman R, Munnich A, Steffann J. Single cell quantification of the 8993T>G NARP mitochondrial DNA mutation by fluorescent PCR. Mol Genet Metab 2005; 84(3):289-292.

 31  Giuliano F, David A, Edery P, Sigaudy S, Bonneau D, Cormier-Daire V, Philip N. Macrocephaly-cutis marmorata telangiectatica congenita: seven cases including two with unusual cerebral manifestations. Am J Med Genet A 2004; 126(1):99-103.

 32  Goldenberg A, Wolf C, Chevy F, Benachi A, Dumez Y, Munnich A, Cormier-Daire V. Antenatal manifestations of Smith-Lemli-Opitz (RSH) syndrome: a retrospective survey of 30 cases. Am J Med Genet A 2004; 124(4):423-426.

 33  Hadj-Rabia S, Baala L, Vabres P, Hamel-Teillac D, Jacquemin E, Fabre M, Lyonnet S, De Prost Y, Munnich A, Hadchouel M, Smahi A. Claudin-1 gene mutations in neonatal sclerosing cholangitis associated with ichthyosis: a tight junction disease. Gastroenterology 2004; 127(5):1386-1390.

 34  Hanein S, Perrault I, Gerber S, Tanguy G, Barbet F, Ducroq D, Calvas P, Dollfus H, Hamel C, Lopponen T, Munier F, Santos L, Shalev S, Zafeiriou D, Dufier JL, Munnich A, Rozet JM, Kaplan J. Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis. Hum Mutat 2004; 23(4):306-317.

 35  Heron D, Baumann C, Benichou JJ, Harpey JP, Le Merrer M. Early diagnosis of Maroteaux-Lamy syndrome in two patients with accelerated growth and advanced bone maturation. Eur J Pediatr 2004; 163(6):323-326.

 36  Heron D, Baumann C, Benichou JJ, Harpey JP, Le Merrer M. Early diagnosis of Maroteaux-Lamy syndrome in two patients with accelerated growth and advanced bone maturation. Eur J Pediatr 2004; .

 37  Kohl S, Varsanyi B, Antunes GA, Baumann B, Hoyng CB, Jagle H, Rosenberg T, Kellner U, Lorenz B, Salati R, Jurklies B, Farkas A, Andreasson S, Weleber RG, Jacobson SG, Rudolph G, Castellan C, Dollfus H, Legius E, Anastasi M, Bitoun P, Lev D, Sieving PA, Munier FL, Zrenner E, Sharpe LT, Cremers FP, Wissinger B. CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia. Eur J Hum Genet 2004; .

 38  Krakow D, Robertson SP, King LM, Morgan T, Sebald ET, Bertolotto C, Wachsmann-Hogiu S, Acuna D, Shapiro SS, Takafuta T, Aftimos S, Kim CA, Firth H, Steiner CE, Cormier-Daire V, Superti-Furga A, Bonafe L, Graham JM, Jr., Grix A, Bacino CA, Allanson J, Bialer MG, Lachman RS, Rimoin DL, Cohn DH. Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis. Nat Genet 2004; 36(4):405-410.

 39  Lado-Abeal J, Dumitrescu AM, Liao XH, Cohen RN, Pohlenz J, Weiss RE, Lebrethon MC, Verloes A, Refetoff S. A de novo Mutation in an already mutant nucleotide of the thyroid hormone receptor beta gene perpetuates resistance to thyroid hormone. J Clin Endocrinol Metab 2004; .

 40  Lapierre JM, Sanlaville D, Kang J, Ozilou C, Le Lorc'h M, Waill MC, Prieur M, Colleaux L, Munnich A, Turleau C, Benkhalifa M, Mohammed M, Vekemans M, Romana S. [A preliminary study to assess the value of the DNA chips SpectralChip to detect subtle constitutional chromosome imbalances]. Ann Biol Clin (Paris) 2004; 62(2):203-212.

 41  Legeai-Mallet L, Benoist-Lasselin C, Munnich A, Bonaventure J. Overexpression of FGFR3, Stat1, Stat5 and p21Cip1 correlates with phenotypic severity and defective chondrocyte differentiation in FGFR3-related chondrodysplasias. Bone 2004; 34(1):26-36.

 42  Lossos A, Baala L, Soffer D, Averbuch-Heller L, Dotan S, Munnich A, Lyonnet S, Gomori JM, Genem A, Neufeld M, Abramsky O, Zlotogora J, Argov Z. A novel autosomal recessive myopathy with external ophthalmoplegia linked to chromosome 17p13.1-p12. Brain 2005; 128(Pt 1):42-51.

 43  Marie S, Heron B, Bitoun P, Timmerman T, Van Den BG, Vincent MF. AICA-ribosiduria: a novel, neurologically devastating inborn error of purine biosynthesis caused by mutation of ATIC. Am J Hum Genet 2004; 74(6):1276-1281.

 44  Maystadt I, Zarhrate M, Landrieu P, Boespflug-Tanguy O, Sukno S, Collignon P, Melki J, Verellen-Dumoulin C, Munnich A, Viollet L. Allelic heterogeneity of SMARD1 at the IGHMBP2 locus. Hum Mutat 2004; 23(5):525-526.

 45  Megarbane A, Daou L, Megarbane H, Cave H, Chouery E, Verloes A. New autosomal recessive syndrome with short stature and facio-auriculo-thoracic malformations. Am J Med Genet 2004; 128A(4):414-417.

 46  Molinari F, Raas-Rothschild A, Rio M, Fiermonte G, Encha-Razavi F, Palmieri L, Palmieri F, Ben Neriah Z, Kadhom N, Vekemans M, Attie-Bitach T, Munnich A, Rustin P, Colleaux L. Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy. Am J Hum Genet 2005; 76(2):334-339.

 47  Navarro CL, Sandre-Giovannoli A, Bernard R, Boccaccio I, Boyer A, Genevieve D, Hadj-Rabia S, Gaudy-Marqueste C, Smitt HS, Vabres P, Faivre L, Verloes A, Van Essen T, Flori E, Hennekam R, Beemer FA, Laurent N, Le Merrer M, Cau P, Levy N. Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy. Hum Mol Genet 2004; 13(20):2493-2503.

 48  Paupe V, Gilbert T, Le Merrer M, Munnich A, Cormier-Daire V, El G, V. Recent advances in Dyggve-Melchior-Clausen syndrome. Mol Genet Metab 2004; 83(1-2):51-59.

 49  Perrault I, Hanein S, Gerber S, Barbet F, Ducroq D, Dollfus H, Hamel C, Dufier JL, Munnich A, Kaplan J, Rozet JM. Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis. Am J Hum Genet 2004; 75(4):639-646.

 50  Philippe A, Deron J, Genevieve D, de Lonlay P, Gibson KM, Rabier D, Munnich A. Neurodevelopmental pattern of succinic semialdehyde dehydrogenase deficiency (gamma-hydroxybutyric aciduria). Dev Med Child Neurol 2004; 46(8):564-568.

 51  Rotig A, Lebon S, Zinovieva E, Mollet J, Sarzi E, Bonnefont JP, Munnich A. Molecular diagnostics of mitochondrial disorders. Biochim Biophys Acta 2004; 1659(2-3):129-135.

 52  Roubergue A, Apartis E, Vidailhet M, Mignot C, Tullio-Pelet A, Lyonnet S, De Villemeur TB. Myoclonus and generalized digestive dysmotility in triple A syndrome with AAAS gene mutation. Mov Disord 2004; 19(3):344-346.

 53  Ruano R, Molho M, Roume J, Ville Y. Prenatal diagnosis of fetal skeletal dysplasias by combining two-dimensional and three-dimensional ultrasound and intrauterine three-dimensional helical computer tomography. Ultrasound Obstet Gynecol 2004; 24(2):134-140.

 54  Shibamura H, Olson JM, Vlijmen-Van Keulen C, Buxbaum SG, Dudek DM, Tromp G, Ogata T, Skunca M, Sakalihasan N, Pals G, Limet R, MacKean GL, Defawe O, Verloes A, Arthur C, Lossing AG, Burnett M, Sueda T, Kuivaniemi H. Genome scan for familial abdominal aortic aneurysm using sex and family history as covariates suggests genetic heterogeneity and identifies linkage to chromosome 19q13. Circulation 2004; 109(17):2103-2108.

 55  Sinico M, Touboul C, Haddad B, Encha-Razavi F, Paniel JB, Gicquel C, Gerard-Blanluet M. Giant omphalocele and "prune belly" sequence as components of the Beckwith-Wiedemann syndrome. Am J Med Genet 2004; 129A(2):198-200.

 56  Steffann J, Raclin V, Smahi A, Woffendin H, Munnich A, Kenwrick SJ, Grebille AG, Benachi A, Dumez Y, Bonnefont JP, Hadj-Rabia S. A novel PCR approach for prenatal detection of the common NEMO rearrangement in incontinentia pigmenti. Prenat Diagn 2004; 24(5):384-388.

 57  Trang H, Laudier B, Trochet D, Munnich A, Lyonnet S, Gaultier C, Amiel J. PHOX2B gene mutation in a patient with late-onset central hypoventilation. Pediatr Pulmonol 2004; 38(4):349-351.

 58  Trochet D, Bourdeaut F, Janoueix-Lerosey I, Deville A, de Pontual L, Schleiermacher G, Coze C, Philip N, Frebourg T, Munnich A, Lyonnet S, Delattre O, Amiel J. Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma. Am J Hum Genet 2004; 74(4):761-764.

 59  Verloes A, Massin M, Fransolet AC, Misson JP. Hypertrichosis, Fallot tetralogy, growth and developmental delay. Clin Dysmorphol 2004; 13(4):247-250.

 60  Verloes A, Raoul M, Genevieve D, Sznajer Y, Demarche M, Lombet J, Rigo V, Misson JP, Collignon L, Vanwijck F, Vanwijck R. Bony syngnathia, vertebral segmentation defect, coloboma, microcephaly and mental retardation: confirmation of Dobrow syndrome and review of syndromal syngnathias. Clin Dysmorphol 2004; 13(4):205-211.

 61  Verloes A, Bitoun P, Heuskin A, Amrom D, van de BH, Nikkel SM, Chudley AE, Prasad AN, Rusu C, Covic M, Toutain A, Moraine C, Parisi MA, Patton M, Martin JJ, Van Thienen MN. Mobius sequence, Robin complex, and hypotonia: severe expression of brainstem disruption spectrum versus Carey-Fineman-Ziter syndrome. Am J Med Genet 2004; 127A(3):277-287.

 62  Viollet L, Zarhrate M, Maystadt I, Estournet-Mathiaut B, Barois A, Desguerre I, Mayer M, Chabrol B, LeHeup B, Cusin V, Billette D, V, Bonneau D, Saugier-Veber P, Touzery-De Villepin A, Delaubier A, Kaplan J, Jeanpierre M, Feingold J, Munnich A. Refined genetic mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13.3 and evidence of linkage disequilibrium in European families. Eur J Hum Genet 2004; 12(6):483-488.

 63  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. Neocortical neuronal arrangement in LIS1 and DCX lissencephaly may be different. Am J Med Genet A 2004; 126(2):123-128.