PubMed

Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.

Laugel V, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent M, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias E, Tolmie J, Martin-Coignard D, Drouin-Garraud V, Heron D, Journel H, Raffo E, Vigneron J, Lyonnet S, Murday V, Gubser-Mercati D, Funalot B, Brueton L, Del Pozo JS, Muñoz E, Gennery A, Salih M, Noruzinia M, Prescott K, Ramos L, Stark Z, Fieggen K, Chabrol B, Sarda P, Edery P, Bloch-Zupan A, Fawcett H, Pham D, Egly J, Lehmann A, Sarasin A, Dollfus H.

Hum Mutat. 2009 Nov 5. [Epub ahead of print]PMID: 19894250 [PubMed - as supplied by publisher]Related articles

OBSL1 mutations in 3-M syndrome are associated with a modulation of IGFBP2 and IGFBP5 expression levels.

Huber C, Fradin M, Edouard T, Merrer ML, Alanay Y, Bezerra Da Silva D, David A, Hamamy H, van Hest L, Meldgaard Lund A, Michaud J, Oley C, Patel C, Rajab A, Skidmore D, Stewart H, Tauber M, Munnich A, Cormier-Daire V.

Hum Mutat. 2009 Oct 29. [Epub ahead of print]PMID: 19877176 [PubMed - as supplied by publisher]Related articles

Identification of CANT1 Mutations in Desbuquois Dysplasia.

Huber C, Oulès B, Bertoli M, Chami M, Fradin M, Alanay Y, Al-Gazali LI, Ausems MG, Bitoun P, Cavalcanti DP, Krebs A, Le Merrer M, Mortier G, Shafeghati Y, Superti-Furga A, Robertson SP, Le Goff C, Muda AO, Paterlini-Bréchot P, Munnich A, Cormier-Daire V.

Am J Hum Genet. 2009 Nov;85(5):706-10. Epub 2009 Oct 22.PMID: 19853239 [PubMed - in process]Related articles

Array-based comparative genomic hybridization identifies a high frequency of copy number variations in patients with syndromic overgrowth.

Malan V, Chevallier S, Soler G, Coubes C, Lacombe D, Pasquier L, Soulier J, Morichon-Delvallez N, Turleau C, Munnich A, Romana S, Vekemans M, Cormier-Daire V, Colleaux L.

Eur J Hum Genet. 2009 Oct 21. [Epub ahead of print]PMID: 19844265 [PubMed - as supplied by publisher]Related articles

Mutation in IFT80 gene in a foetus with a phenotype of Verma-Naumoff provides molecular evidence for the Jeune-Verma-Naumoff dysplasia spectrum.

Cavalcanti DP, Huber C, Le Quan Sang KH, Baujat G, Collins F, Delezoide AL, Dagoneau N, Le Merrer M, Martinovic J, Mello MF, Vekemans M, Munnich A, Cormier-Daire V.

J Med Genet. 2009 Aug 11. [Epub ahead of print]PMID: 19648123 [PubMed - as supplied by publisher]Related articles

Molecular analysis of Pericentrin gene (PCNT) in a series of 24 Seckel/ MOPD II families.

Willems M, Geneviève D, Borck G, Baumann C, Baujat G, Bieth E, Edery P, Farra C, Gérard M, Héron D, Leheup B, Le Merrer M, Lyonnet S, Martin-Coignard D, Mathieu M, Thauvin-Robinet C, Verloes A, Colleaux L, Munnich A, Cormier-Daire V.

J Med Genet. 2009 Nov 4. [Epub ahead of print]PMID: 19643772 [PubMed - as supplied by publisher]Related articles

Mutations in MMP9 and MMP13 determine the mode of inheritance and the clinical spectrum of metaphyseal anadysplasia.

Lausch E, Keppler R, Hilbert K, Cormier-Daire V, Nikkel S, Nishimura G, Unger S, Spranger J, Superti-Furga A, Zabel B.

Am J Hum Genet. 2009 Aug;85(2):168-78. Epub 2009 Jul 16. Erratum in: Am J Hum Genet. 2009 Sep;85(3):420. PMID: 19615667 [PubMed - indexed for MEDLINE]Related articles

Nicolaides-Baraitser syndrome: Delineation of the phenotype.

Sousa SB, Abdul-Rahman OA, Bottani A, Cormier-Daire V, Fryer A, Gillessen-Kaesbach G, Horn D, Josifova D, Kuechler A, Lees M, MacDermot K, Magee A, Morice-Picard F, Rosser E, Sarkar A, Shannon N, Stolte-Dijkstra I, Verloes A, Wakeling E, Wilson L, Hennekam RC.

Am J Med Genet A. 2009 Aug;149A(8):1628-40.PMID: 19606471 [PubMed - indexed for MEDLINE]Related articles

In vitro readthrough of termination codons by gentamycin in the Stüve-Wiedemann Syndrome.

Bellais S, Le Goff C, Dagoneau N, Munnich A, Cormier-Daire V.

Eur J Hum Genet. 2009 Jul 15. [Epub ahead of print]PMID: 19603067 [PubMed - as supplied by publisher]Related articles

Contribution of three-dimensional computed tomography in prenatal diagnosis of lethal infantile cortical hyperostosis (Caffey disease).

Darmency V, Thauvin-Robinet C, Rousseau T, Mejean N, Charra S, Coron F, Cassini C, Huet F, Le Merrer M, Cormier-Daire V, Laurent N, Sagot P, Faivre L.

Prenat Diagn. 2009 Sep;29(9):892-4. No abstract available. PMID: 19455587 [PubMed - in process]Related articles

DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III.

Dagoneau N, Goulet M, Geneviève D, Sznajer Y, Martinovic J, Smithson S, Huber C, Baujat G, Flori E, Tecco L, Cavalcanti D, Delezoide AL, Serre V, Le Merrer M, Munnich A, Cormier-Daire V.

Am J Hum Genet. 2009 May;84(5):706-11.PMID: 19442771 [PubMed - indexed for MEDLINE]Related articlesFree article

Genetic and molecular aspects of acromelic dysplasia.

Le Goff C, Cormier-Daire V.

Pediatr Endocrinol Rev. 2009 Mar;6(3):418-23. Review.PMID: 19396027 [PubMed - indexed for MEDLINE]Related articles

Abnormal oral-pharyngeal swallowing as cause of morbidity and early death in Stüve-Wiedemann syndrome.

Corona-Rivera JR, Cormier-Daire V, Dagoneau N, Coello-Ramírez P, López-Marure E, Romo-Huerta CO, Silva-Baez H, Aguirre-Salas LM, Estrada-Solorio MI.

Eur J Med Genet. 2009 Jul-Aug;52(4):242-6. Epub 2009 Apr 14.PMID: 19371797 [PubMed - indexed for MEDLINE]Related articles

Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype.

Kleefstra T, van Zelst-Stams WA, Nillesen WM, Cormier-Daire V, Houge G, Foulds N, van Dooren M, Willemsen MH, Pfundt R, Turner A, Wilson M, McGaughran J, Rauch A, Zenker M, Adam MP, Innes M, Davies C, López AG, Casalone R, Weber A, Brueton LA, Navarro AD, Bralo MP, Venselaar H, Stegmann SP, Yntema HG, van Bokhoven H, Brunner HG.

J Med Genet. 2009 Sep;46(9):598-606. Epub 2009 Mar 4.PMID: 19264732 [PubMed - in process]Related articles

A large-scale mutation search reveals genetic heterogeneity in 3M syndrome.

Huber C, Delezoide AL, Guimiot F, Baumann C, Malan V, Le Merrer M, Da Silva DB, Bonneau D, Chatelain P, Chu C, Clark R, Cox H, Edery P, Edouard T, Fano V, Gibson K, Gillessen-Kaesbach G, Giovannucci-Uzielli ML, Graul-Neumann LM, van Hagen JM, van Hest L, Horovitz D, Melki J, Partsch CJ, Plauchu H, Rajab A, Rossi M, Sillence D, Steichen-Gersdorf E, Stewart H, Unger S, Zenker M, Munnich A, Cormier-Daire V.

Eur J Hum Genet. 2009 Mar;17(3):395-400. Epub 2008 Oct 29.PMID: 19225462 [PubMed - indexed for MEDLINE]Related articles

Elements of morphology: standard terminology for the nose and philtrum.

Hennekam RC, Cormier-Daire V, Hall JG, Méhes K, Patton M, Stevenson RE.

Am J Med Genet A. 2009 Jan;149A(1):61-76.PMID: 19152422 [PubMed - indexed for MEDLINE]Related articles

19q13.11 deletion syndrome: a novel clinically recognisable genetic condition identified by array comparative genomic hybridisation.

Malan V, Raoul O, Firth HV, Royer G, Turleau C, Bernheim A, Willatt L, Munnich A, Vekemans M, Lyonnet S, Cormier-Daire V, Colleaux L.

J Med Genet. 2009 Sep;46(9):635-40. Epub 2009 Jan 6.PMID: 19126570 [PubMed - in process]Related articles

Mutations in DDR2 gene cause SMED with short limbs and abnormal calcifications.

Bargal R, Cormier-Daire V, Ben-Neriah Z, Le Merrer M, Sosna J, Melki J, Zangen DH, Smithson SF, Borochowitz Z, Belostotsky R, Raas-Rothschild A.

Am J Hum Genet. 2009 Jan;84(1):80-4. Epub 2008 Dec 24.PMID: 19110212 [PubMed - indexed for MEDLINE]Related articlesFree article

Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis.

Jenkins ZA, van Kogelenberg M, Morgan T, Jeffs A, Fukuzawa R, Pearl E, Thaller C, Hing AV, Porteous ME, Garcia-Miñaur S, Bohring A, Lacombe D, Stewart F, Fiskerstrand T, Bindoff L, Berland S, Adès LC, Tchan M, David A, Wilson LC, Hennekam RC, Donnai D, Mansour S, Cormier-Daire V, Robertson SP.

Nat Genet. 2009 Jan;41(1):95-100. Epub 2008 Dec 14.PMID: 19079258 [PubMed - indexed for MEDLINE]Related articles

The gene responsible for Dyggve-Melchior-Clausen syndrome encodes a novel peripheral membrane protein dynamically associated with the Golgi apparatus.

Dimitrov A, Paupe V, Gueudry C, Sibarita JB, Raposo G, Vielemeyer O, Gilbert T, Csaba Z, Attie-Bitach T, Cormier-Daire V, Gressens P, Rustin P, Perez F, El Ghouzzi V.

Hum Mol Genet. 2009 Feb 1;18(3):440-53. Epub 2008 Nov 7. Erratum in: Hum Mol Genet. 2009 May 1;18(9):1714-6. PMID: 18996921 [PubMed - indexed for MEDLINE]Related articles

Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders.

Stheneur C, Collod-Béroud G, Faivre L, Gouya L, Sultan G, Le Parc JM, Moura B, Attias D, Muti C, Sznajder M, Claustres M, Junien C, Baumann C, Cormier-Daire V, Rio M, Lyonnet S, Plauchu H, Lacombe D, Chevallier B, Jondeau G, Boileau C.

Hum Mutat. 2008 Nov;29(11):E284-95.PMID: 18781618 [PubMed - indexed for MEDLINE]Related articles

The mutation spectrum in RECQL4 diseases.

Siitonen HA, Sotkasiira J, Biervliet M, Benmansour A, Capri Y, Cormier-Daire V, Crandall B, Hannula-Jouppi K, Hennekam R, Herzog D, Keymolen K, Lipsanen-Nyman M, Miny P, Plon SE, Riedl S, Sarkar A, Vargas FR, Verloes A, Wang LL, Kääriäinen H, Kestilä M.

Eur J Hum Genet. 2009 Feb;17(2):151-8. Epub 2008 Aug 20.PMID: 18716613 [PubMed - indexed for MEDLINE]Related articles

ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation.

Le Goff C, Morice-Picard F, Dagoneau N, Wang LW, Perrot C, Crow YJ, Bauer F, Flori E, Prost-Squarcioni C, Krakow D, Ge G, Greenspan DS, Bonnet D, Le Merrer M, Munnich A, Apte SS, Cormier-Daire V.

Nat Genet. 2008 Sep;40(9):1119-23.PMID: 18677313 [PubMed - indexed for MEDLINE]Related articlesFree article

Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells.

de Beaucoudrey L, Puel A, Filipe-Santos O, Cobat A, Ghandil P, Chrabieh M, Feinberg J, von Bernuth H, Samarina A, Jannière L, Fieschi C, Stéphan JL, Boileau C, Lyonnet S, Jondeau G, Cormier-Daire V, Le Merrer M, Hoarau C, Lebranchu Y, Lortholary O, Chandesris MO, Tron F, Gambineri E, Bianchi L, Rodriguez-Gallego C, Zitnik SE, Vasconcelos J, Guedes M, Vitor AB, Marodi L, Chapel H, Reid B, Roifman C, Nadal D, Reichenbach J, Caragol I, Garty BZ, Dogu F, Camcioglu Y, Gülle S, Sanal O, Fischer A, Abel L, Stockinger B, Picard C, Casanova JL.

J Exp Med. 2008 Jul 7;205(7):1543-50.PMID: 18591412 [PubMed - indexed for MEDLINE]Related articlesFree article

[Osteogenesis imperfecta, diagnosis information (clinical and genetic classification)]

Baujat G, Lebre AS, Cormier-Daire V, Le Merrer M.

Arch Pediatr. 2008 Jun;15(5):789-91. French. No abstract available. PMID: 18582751 [PubMed - indexed for MEDLINE]Related articles

Functional analysis of an ADAMTS10 signal peptide mutation in Weill-Marchesani syndrome demonstrates a long-range effect on secretion of the full-length enzyme.

Kutz WE, Wang LW, Dagoneau N, Odrcic KJ, Cormier-Daire V, Traboulsi EI, Apte SS.

Hum Mutat. 2008 Dec;29(12):1425-34.PMID: 18567016 [PubMed - indexed for MEDLINE]Related articles

A new osteogenesis imperfecta with improvement over time maps to 11q.

Kamoun-Goldrat A, Pannier S, Huber C, Finidori G, Munnich A, Cormier-Daire V, Le Merrer M.

Am J Med Genet A. 2008 Jul 15;146A(14):1807-14.PMID: 18553516 [PubMed - indexed for MEDLINE]Related articles

Autosomal dominant spondylocarpotarsal synostosis syndrome: phenotypic homogeneity and genetic heterogeneity.

Isidor B, Cormier-Daire V, Le Merrer M, Lefrancois T, Hamel A, Le Caignec C, David A, Jacquemont S.

Am J Med Genet A. 2008 Jun 15;146A(12):1593-7.PMID: 18470895 [PubMed - indexed for MEDLINE]Related articles

Revisiting metatropic dysplasia: presentation of a series of 19 novel patients and review of the literature.

Geneviève D, Le Merrer M, Feingold J, Munnich A, Maroteaux P, Cormier-Daire V.

Am J Med Genet A. 2008 Apr 15;146A(8):992-6. Review.PMID: 18348257 [PubMed - indexed for MEDLINE]Related articles

Spondylo-epi-metaphyseal dysplasia.

Cormier-Daire V.

Best Pract Res Clin Rheumatol. 2008 Mar;22(1):33-44. Review.PMID: 18328979 [PubMed - indexed for MEDLINE]Related articles

Achondroplasia.

Baujat G, Legeai-Mallet L, Finidori G, Cormier-Daire V, Le Merrer M.

Best Pract Res Clin Rheumatol. 2008 Mar;22(1):3-18. Review.PMID: 18328977 [PubMed - indexed for MEDLINE]Related articles

Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome).

Geneviève D, Proulle V, Isidor B, Bellais S, Serre V, Djouadi F, Picard C, Vignon-Savoye C, Bader-Meunier B, Blanche S, de Vernejoul MC, Legeai-Mallet L, Fischer AM, Le Merrer M, Dreyfus M, Gaussem P, Munnich A, Cormier-Daire V.

Nat Genet. 2008 Mar;40(3):284-6. Epub 2008 Feb 10.PMID: 18264100 [PubMed - indexed for MEDLINE]Related articles

Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) robustly detects and distinguishes 11p15 abnormalities associated with overgrowth and growth retardation.

Scott RH, Douglas J, Baskcomb L, Nygren AO, Birch JM, Cole TR, Cormier-Daire V, Eastwood DM, Garcia-Minaur S, Lupunzina P, Tatton-Brown K, Bliek J, Maher ER, Rahman N.

J Med Genet. 2008 Feb;45(2):106-13. Epub 2007 Oct 15.PMID: 18245390 [PubMed - indexed for MEDLINE]Related articles

Novel mutation and atlantoaxial dislocation in two siblings from India with Dyggve-Melchior-Clausen syndrome.

Girisha KM, Cormier-Daire V, Heuertz S, Phadke RV, Phadke SR.

Eur J Med Genet. 2008 May-Jun;51(3):251-6. Epub 2007 Dec 24.PMID: 18243083 [PubMed - indexed for MEDLINE]Related articles

Deletion of 5' sequences of the CSB gene provides insight into the pathophysiology of Cockayne syndrome.

Laugel V, Dalloz C, Stary A, Cormier-Daire V, Desguerre I, Renouil M, Fourmaintraux A, Velez-Cruz R, Egly JM, Sarasin A, Dollfus H.

Eur J Hum Genet. 2008 Mar;16(3):320-7. Epub 2008 Jan 9.PMID: 18183039 [PubMed - indexed for MEDLINE]Related articlesFree article

Methylation-specific MLPA (MS-MLPA) robustly detects and distinguishes 11p15 abnormalities associated with overgrowth and growth retardation.

Scott RH, Douglas J, Baskcomb L, Nygren AO, Birch JM, Cole TR, Cormier-Daire V, Eastwood DM, Garcia-Minaur S, Lapunzina P, Tatton-Brown K, Bliek J, Maher ER, Rahman N.

J Med Genet. 2007 Oct 15. [Epub ahead of print]PMID: 17938164 [PubMed - as supplied by publisher]Related articles

Sotos syndrome.

Baujat G, Cormier-Daire V.

Orphanet J Rare Dis. 2007 Sep 7;2:36. Review.PMID: 17825104 [PubMed - indexed for MEDLINE]Related articlesFree article

Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth.

Douglas J, Cilliers D, Coleman K, Tatton-Brown K, Barker K, Bernhard B, Burn J, Huson S, Josifova D, Lacombe D, Malik M, Mansour S, Reid E, Cormier-Daire V, Cole T; Childhood Overgrowth Collaboration, Rahman N.

Nat Genet. 2007 Aug;39(8):963-5. Epub 2007 Jul 15.PMID: 17632510 [PubMed - indexed for MEDLINE]Related articles

Heterogeneity of NSD1 alterations in 116 patients with Sotos syndrome.

Saugier-Veber P, Bonnet C, Afenjar A, Drouin-Garraud V, Coubes C, Fehrenbach S, Holder-Espinasse M, Roume J, Malan V, Portnoi MF, Jeanne N, Baumann C, Héron D, David A, Gérard M, Bonneau D, Lacombe D, Cormier-Daire V, Billette de Villemeur T, Frébourg T, Bürglen L.

Hum Mutat. 2007 Nov;28(11):1098-107.PMID: 17565729 [PubMed - indexed for MEDLINE]Related articles

Mitochondrial DNA depletion is a prevalent cause of multiple respiratory chain deficiency in childhood.

Sarzi E, Bourdon A, Chrétien D, Zarhrate M, Corcos J, Slama A, Cormier-Daire V, de Lonlay P, Munnich A, Rötig A.

J Pediatr. 2007 May;150(5):531-4, 534.e1-6.PMID: 17452231 [PubMed - indexed for MEDLINE]Related articles

Mutations in cytokine receptor-like factor 1 (CRLF1) account for both Crisponi and cold-induced sweating syndromes.

Dagoneau N, Bellais S, Blanchet P, Sarda P, Al-Gazali LI, Di Rocco M, Huber C, Djouadi F, Le Goff C, Munnich A, Cormier-Daire V.

Am J Hum Genet. 2007 May;80(5):966-70. Epub 2007 Mar 13.PMID: 17436251 [PubMed - indexed for MEDLINE]Related articlesFree article

[Dyggve-Melchior-Clausen syndrome, diagnostic difficulty due to it similarity to Morquio disease]

Rodríguez Rodríguez CM, Pineda Marfa M, Duque R, Cormier-Daire V.

Neurologia. 2007 Mar;22(2):126-9. Spanish. PMID: 17323241 [PubMed - indexed for MEDLINE]Related articlesFree article

[Dyggve-Melchior-Clausen syndrome: presentation of a case with a mutation of possible Spanish origin]

Martínez-Frías ML, Cormier-Daire V, Cohn DH, Mendioroz J, Bermejo E, Mansilla E.

Med Clin (Barc). 2007 Feb 3;128(4):137-40. Review. Spanish. PMID: 17288936 [PubMed - indexed for MEDLINE]Related articles

Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations.

Borck G, Zarhrate M, Bonnefont JP, Munnich A, Cormier-Daire V, Colleaux L.

Hum Mutat. 2007 Feb;28(2):205-6.PMID: 17221863 [PubMed - indexed for MEDLINE]Related articles

A gene responsible for Ghosal hemato-diaphyseal dysplasia maps to chromosome 7q33-34.

Isidor B, Dagoneau N, Huber C, Genevieve D, Bader-Meunier B, Blanche S, Picard C, De Vernejoul MC, Munnich A, Le Merrer M, Cormier-Daire V.

Hum Genet. 2007 Apr;121(2):269-73. Epub 2007 Jan 3.PMID: 17203301 [PubMed - indexed for MEDLINE]Related articles

Early-onset ophthalmoplegia in Leigh-like syndrome due to NDUFV1 mutations.

Laugel V, This-Bernd V, Cormier-Daire V, Speeg-Schatz C, de Saint-Martin A, Fischbach M.

Pediatr Neurol. 2007 Jan;36(1):54-7.PMID: 17162199 [PubMed - indexed for MEDLINE]Related articles

Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia.

Zankl A, Jackson GC, Crettol LM, Taylor J, Elles R, Mortier GR, Spranger J, Zabel B, Unger S, Merrer ML, Cormier-Daire V, Hall CM, Wright MJ, Bonafe L, Superti-Furga A, Briggs MD.

Eur J Hum Genet. 2007 Feb;15(2):150-4. Epub 2006 Nov 29.PMID: 17133256 [PubMed - indexed for MEDLINE]Related articlesFree article

Schimke immunoosseous dysplasia: suggestions of genetic diversity.

Clewing JM, Fryssira H, Goodman D, Smithson SF, Sloan EA, Lou S, Huang Y, Choi K, Lücke T, Alpay H, André JL, Asakura Y, Biebuyck-Gouge N, Bogdanovic R, Bonneau D, Cancrini C, Cochat P, Cockfield S, Collard L, Cordeiro I, Cormier-Daire V, Cransberg K, Cutka K, Deschenes G, Ehrich JH, Fründ S, Georgaki H, Guillen-Navarro E, Hinkelmann B, Kanariou M, Kasap B, Kilic SS, Lama G, Lamfers P, Loirat C, Majore S, Milford D, Morin D, Ozdemir N, Pontz BF, Proesmans W, Psoni S, Reichenbach H, Reif S, Rusu C, Saraiva JM, Sakallioglu O, Schmidt B, Shoemaker L, Sigaudy S, Smith G, Sotsiou F, Stajic N, Stein A, Stray-Pedersen A, Taha D, Taque S, Tizard J, Tsimaratos M, Wong NA, Boerkoel CF.

Hum Mutat. 2007 Mar;28(3):273-83.PMID: 17089404 [PubMed - indexed for MEDLINE]Related articles

Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia.

Heuertz S, Le Merrer M, Zabel B, Wright M, Legeai-Mallet L, Cormier-Daire V, Gibbs L, Bonaventure J.

Eur J Hum Genet. 2006 Dec;14(12):1240-7. Epub 2006 Aug 16. Erratum in: Eur J Hum Genet. 2006 Dec;14(12):1321. PMID: 16912704 [PubMed - indexed for MEDLINE]Related articlesFree article

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