Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 20 of 401

1.

Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangism.

Ehmke N, Cusmano-Ozog K, Koenig R, Holtgrewe M, Nur B, Mihci E, Babcock H, Gonzaga-Jauregui C, Overton JD, Xiao J, Martinez A, Muenke M, Balzer A, Jochim J, El Choubassi N, Fischer-Zirnsak B, Huber C, Kornak U, Elsea S, Cormier-Daire V, Ferreira CR.

Bone. 2020 Jan 7:115219. doi: 10.1016/j.bone.2019.115219. [Epub ahead of print]

PMID:
31923704
2.

Absence of GP130 cytokine receptor signaling causes extended Stüve-Wiedemann syndrome.

Chen YH, Grigelioniene G, Newton PT, Gullander J, Elfving M, Hammarsjö A, Batkovskyte D, Alsaif HS, Kurdi WIY, Abdulwahab F, Shanmugasundaram V, Devey L, Bacrot S, Brodszki J, Huber C, Hamel B, Gisselsson D, Papadogiannakis N, Jedrycha K, Gürtl-Lackner B, Chagin AS, Nishimura G, Aschenbrenner D, Alkuraya FS, Laurence A, Cormier-Daire V, Uhlig HH.

J Exp Med. 2020 Mar 2;217(3). pii: e20191306. doi: 10.1084/jem.20191306.

PMID:
31914175
3.

Healthcare trajectory of children with rare bone disease attending pediatric emergency departments.

Yang DD, Baujat G, Neuraz A, Garcelon N, Messiaen C, Sandrin A, Cheron G, Burgun A, Pejin Z, Cormier-Daire V, Angoulvant F.

Orphanet J Rare Dis. 2020 Jan 3;15(1):2. doi: 10.1186/s13023-019-1284-1.

4.

Growth charts in Kabuki syndrome 1.

Ruault V, Corsini C, Duflos C, Akouete S, Georgescu V, Abaji M, Alembick Y, Alix E, Amiel J, Amouroux C, Barat-Houari M, Baumann C, Bonnard A, Boursier G, Boute O, Burglen L, Busa T, Cordier MP, Cormier-Daire V, Delrue MA, Doray B, Faivre L, Fradin M, Gilbert-Dussardier B, Giuliano F, Goldenberg A, Gorokhova S, Héron D, Isidor B, Jacquemont ML, Jacquette A, Jeandel C, Lacombe D, Le Merrer M, Sang KHLQ, Lyonnet S, Manouvrier S, Michot C, Moncla A, Moutton S, Odent S, Pelet A, Philip N, Pinson L, Reversat J, Roume J, Sanchez E, Sanlaville D, Sarda P, Schaefer E, Till M, Touitou I, Toutain A, Willems M, Gatinois V, Geneviève D.

Am J Med Genet A. 2019 Dec 26. doi: 10.1002/ajmg.a.61462. [Epub ahead of print]

PMID:
31876365
5.

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.

Mak CCY, Doherty D, Lin AE, Vegas N, Cho MT, Viot G, Dimartino C, Weisfeld-Adams JD, Lessel D, Joss S, Li C, Gonzaga-Jauregui C, Zarate YA, Ehmke N, Horn D, Troyer C, Kant SG, Lee Y, Ishak GE, Leung G, Barone Pritchard A, Yang S, Bend EG, Filippini F, Roadhouse C, Lebrun N, Mehaffey MG, Martin PM, Apple B, Millan F, Puk O, Hoffer MJV, Henderson LB, McGowan R, Wentzensen IM, Pei S, Zahir FR, Yu M, Gibson WT, Seman A, Steeves M, Murrell JR, Luettgen S, Francisco E, Strom TM, Amlie-Wolf L, Kaindl AM, Wilson WG, Halbach S, Basel-Salmon L, Lev-El N, Denecke J, Vissers LELM, Radtke K, Chelly J, Zackai E, Friedman JM, Bamshad MJ, Nickerson DA; University of Washington Center for Mendelian Genomics, Reid RR, Devriendt K, Chae JH, Stolerman E, McDougall C, Powis Z, Bienvenu T, Tan TY, Orenstein N, Dobyns WB, Shieh JT, Choi M, Waggoner D, Gripp KW, Parker MJ, Stoler J, Lyonnet S, Cormier-Daire V, Viskochil D, Hoffman TL, Amiel J, Chung BHY, Gordon CT.

Brain. 2020 Jan 1;143(1):55-68. doi: 10.1093/brain/awz379.

PMID:
31834374
6.

A new case of KIAA0753-related variant of Jeune asphyxiating thoracic dystrophy.

Faudi E, Brischoux-Boucher E, Huber C, Dabudyk T, Lenoir M, Baujat G, Michot C, Van Maldergem L, Cormier-Daire V, Piard J.

Eur J Med Genet. 2019 Dec 7:103823. doi: 10.1016/j.ejmg.2019.103823. [Epub ahead of print] Review.

PMID:
31816441
7.

Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-β.

Li J, Ritelli M, Ma CS, Rao G, Habib T, Corvilain E, Bougarn S, Cypowyj S, Grodecká L, Lévy R, Béziat V, Shang L, Payne K, Avery DT, Migaud M, Boucherit S, Boughorbel S, Guennoun A, Chrabieh M, Rapaport F, Bigio B, Itan Y, Boisson B, Cormier-Daire V, Syx D, Malfait F, Zoppi N, Abel L, Freiberger T, Dietz HC, Marr N, Tangye SG, Colombi M, Casanova JL, Puel A.

Sci Immunol. 2019 Nov 29;4(41). pii: eaax7965. doi: 10.1126/sciimmunol.aax7965.

PMID:
31784499
8.

Sleep-disordered breathing in children with pycnodysostosis.

Khirani S, Amaddeo A, Baujat G, Michot C, Couloigner V, Pinto G, Arnaud E, Picard A, Cormier-Daire V, Fauroux B.

Am J Med Genet A. 2020 Jan;182(1):122-129. doi: 10.1002/ajmg.a.61393. Epub 2019 Nov 3.

PMID:
31680459
9.

Juvenile osteoporosis with calvarial doughnuts: Progressive high-turnover bone loss responsive to bisphosphonate therapy.

Couture G, Degboe Y, Baujat G, Cormier-Daire V, Laroche M.

Joint Bone Spine. 2019 Nov 1. pii: S1297-319X(19)30155-1. doi: 10.1016/j.jbspin.2019.10.006. [Epub ahead of print] No abstract available.

PMID:
31678657
10.

SETD2 related overgrowth syndrome: Presentation of four new patients and review of the literature.

Marzin P, Rondeau S, Aldinger KA, Alessandri JL, Isidor B, Heron D, Keren B, Dobyns WB, Cormier-Daire V.

Am J Med Genet C Semin Med Genet. 2019 Dec;181(4):509-518. doi: 10.1002/ajmg.c.31746. Epub 2019 Oct 23.

PMID:
31643139
11.

Nosology and classification of genetic skeletal disorders: 2019 revision.

Mortier GR, Cohn DH, Cormier-Daire V, Hall C, Krakow D, Mundlos S, Nishimura G, Robertson S, Sangiorgi L, Savarirayan R, Sillence D, Superti-Furga A, Unger S, Warman ML.

Am J Med Genet A. 2019 Dec;179(12):2393-2419. doi: 10.1002/ajmg.a.61366. Epub 2019 Oct 21.

PMID:
31633310
12.

Craniosynostosis and metabolic bone disorder. A review.

Di Rocco F, Rothenbuhler A, Cormier Daire V, Bacchetta J, Adamsbaum C, Baujat G, Rossi M, Lingart A.

Neurochirurgie. 2019 Nov;65(5):258-263. doi: 10.1016/j.neuchi.2019.09.008. Epub 2019 Sep 25.

PMID:
31562881
13.

[Secondary surgeries in craniosynostosis and faciocraniosynostosis].

Arnaud E, Haber SE, Paternoster G, James S, Khonsari H, Morisseau-Durand MP, Fauroux B, Viot-Blanc V, Couloigner V, Picard A, Cormier-Daire V, Robert M, Legros C, Zerah M, Meyer PH.

Ann Chir Plast Esthet. 2019 Nov;64(5-6):494-505. doi: 10.1016/j.anplas.2019.07.001. Epub 2019 Sep 11. French.

PMID:
31521419
14.

Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals.

Margot H, Boursier G, Duflos C, Sanchez E, Amiel J, Andrau JC, Arpin S, Brischoux-Boucher E, Boute O, Burglen L, Caille C, Capri Y, Collignon P, Conrad S, Cormier-Daire V, Delplancq G, Dieterich K, Dollfus H, Fradin M, Faivre L, Fernandes H, Francannet C, Gatinois V, Gerard M, Goldenberg A, Ghoumid J, Grotto S, Guerrot AM, Guichet A, Isidor B, Jacquemont ML, Julia S, Khau Van Kien P, Legendre M, Le Quan Sang KH, Leheup B, Lyonnet S, Magry V, Manouvrier S, Martin D, Morel G, Munnich A, Naudion S, Odent S, Perrin L, Petit F, Philip N, Rio M, Robbe J, Rossi M, Sarrazin E, Toutain A, Van Gils J, Vera G, Verloes A, Weber S, Whalen S, Sanlaville D, Lacombe D, Aladjidi N, Geneviève D.

Genet Med. 2020 Jan;22(1):181-188. doi: 10.1038/s41436-019-0623-x. Epub 2019 Jul 31.

PMID:
31363182
15.

Heterozygous FGFR1 mutation may be responsible for an incomplete form of osteoglophonic dysplasia, characterized only by radiolucent bone lesions and teeth retentions.

Marzin P, Baujat G, Gensburger D, Huber C, Bole C, Panuel M, Finidori G, De la Dure M, Cormier-Daire V.

Eur J Med Genet. 2019 Jul 15:103729. doi: 10.1016/j.ejmg.2019.103729. [Epub ahead of print]

PMID:
31319224
16.

PAPSS2-related brachyolmia: Clinical and radiological phenotype in 18 new cases.

Bownass L, Abbs S, Armstrong R, Baujat G, Behzadi G, Berentsen RD, Burren C, Calder A, Cormier-Daire V, Newbury-Ecob R, Foulds N, Juliusson PB, Kant SG, Lefroy H, Mehta SG, Merckoll E, Michot C, Monsell F, Offiah AC, Richards A, Rosendahl K, Rustad CF, Shears D, Tveten K, Wellesley D, Wordsworth P; Deciphering Developmental Disorders Study, Smithson S.

Am J Med Genet A. 2019 Sep;179(9):1884-1894. doi: 10.1002/ajmg.a.61282. Epub 2019 Jul 16.

PMID:
31313512
17.

C-Type Natriuretic Peptide Analogue Therapy in Children with Achondroplasia.

Savarirayan R, Irving M, Bacino CA, Bostwick B, Charrow J, Cormier-Daire V, Le Quan Sang KH, Dickson P, Harmatz P, Phillips J, Owen N, Cherukuri A, Jayaram K, Jeha GS, Larimore K, Chan ML, Huntsman Labed A, Day J, Hoover-Fong J.

N Engl J Med. 2019 Jul 4;381(1):25-35. doi: 10.1056/NEJMoa1813446. Epub 2019 Jun 18.

PMID:
31269546
18.

Pycnodysostosis: Natural history and management guidelines from 27 French cases and a literature review.

Bizaoui V, Michot C, Baujat G, Amouroux C, Baron S, Capri Y, Cohen-Solal M, Collet C, Dieux A, Geneviève D, Isidor B, Monnot S, Rossi M, Rothenbuhler A, Schaefer E, Cormier-Daire V.

Clin Genet. 2019 Oct;96(4):309-316. doi: 10.1111/cge.13591. Epub 2019 Jun 25.

PMID:
31237352
19.

Significant contribution of intragenic deletions to ARID1B mutation spectrum.

Gorokhova S, Mortreux J, Afenjar A, Attie-Bitach T, Blanluet M, Cormier-Daire V, Guerrot AM, Lebre AS, Malan V, Nicolas G, Rondeau S, Philip N, Saugier-Veber P, Badens C, Missirian C.

Genet Med. 2019 Nov;21(11):2654-2655. doi: 10.1038/s41436-019-0546-6. Epub 2019 May 20. No abstract available.

PMID:
31105273
20.

Human IFT52 mutations uncover a novel role for the protein in microtubule dynamics and centrosome cohesion.

Dupont MA, Humbert C, Huber C, Siour Q, Guerrera IC, Jung V, Christensen A, Pouliet A, Garfa-Traoré M, Nitschké P, Injeyan M, Millar K, Chitayat D, Shannon P, Girisha KM, Shukla A, Mechler C, Lorentzen E, Benmerah A, Cormier-Daire V, Jeanpierre C, Saunier S, Delous M.

Hum Mol Genet. 2019 Aug 15;28(16):2720-2737. doi: 10.1093/hmg/ddz091.

PMID:
31042281

Supplemental Content

Loading ...
Support Center