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643 results

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Page 1
Inherited glycosylphosphatidylinositol defects cause the rare Emm-negative blood phenotype and developmental disorders.
Duval R, Nicolas G, Willemetz A, Murakami Y, Mikdar M, Vrignaud C, Megahed H, Cartron JP, Masson C, Wehbi S, Koehl B, Hully M, Siquier K, Chemlay N, Rotig A, Lyonnet S, Colin Y, Barcia G, Cantagrel V, Le Van Kim C, Hermine O, Kinoshita T, Peyrard T, Azouzi S. Duval R, et al. Among authors: masson c. Blood. 2021 Jul 1;137(26):3660-3669. doi: 10.1182/blood.2020009810. Blood. 2021. PMID: 33763700 Free article.
Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population.
Megahed H, Nicouleau M, Barcia G, Medina-Cano D, Siquier-Pernet K, Bole-Feysot C, Parisot M, Masson C, Nitschké P, Rio M, Bahi-Buisson N, Desguerre I, Munnich A, Boddaert N, Colleaux L, Cantagrel V. Megahed H, et al. Among authors: masson c. Orphanet J Rare Dis. 2016 May 4;11(1):57. doi: 10.1186/s13023-016-0436-9. Orphanet J Rare Dis. 2016. PMID: 27146152 Free PMC article.
Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy.
Guimier A, Gordon CT, Godard F, Ravenscroft G, Oufadem M, Vasnier C, Rambaud C, Nitschke P, Bole-Feysot C, Masson C, Dauger S, Longman C, Laing NG, Kugener B, Bonnet D, Bouvagnet P, Di Filippo S, Probst V, Redon R, Charron P, Rötig A, Lyonnet S, Dautant A, de Pontual L, di Rago JP, Delahodde A, Amiel J. Guimier A, et al. Among authors: masson c. Am J Hum Genet. 2016 Sep 1;99(3):666-673. doi: 10.1016/j.ajhg.2016.06.021. Epub 2016 Aug 11. Am J Hum Genet. 2016. PMID: 27523598 Free PMC article.
FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases.
Paul A, Drecourt A, Petit F, Deguine DD, Vasnier C, Oufadem M, Masson C, Bonnet C, Masmoudi S, Mosnier I, Mahieu L, Bouccara D, Kaplan J, Challe G, Domange C, Mochel F, Sterkers O, Gerber S, Nitschke P, Bole-Feysot C, Jonard L, Gherbi S, Mercati O, Ben Aissa I, Lyonnet S, Rötig A, Delahodde A, Marlin S. Paul A, et al. Among authors: masson c. Am J Hum Genet. 2017 Oct 5;101(4):630-637. doi: 10.1016/j.ajhg.2017.09.007. Epub 2017 Sep 28. Am J Hum Genet. 2017. PMID: 28965846 Free PMC article.
DOCK11 deficiency in patients with X-linked actinopathy and autoimmunity.
Boussard C, Delage L, Gajardo T, Kauskot A, Batignes M, Goudin N, Stolzenberg MC, Brunaud C, Panikulam P, Riller Q, Moya-Nilges M, Solarz J, Repérant C, Durel B, Bordet JC, Pellé O, Lebreton C, Magérus A, Pirabakaran V, Vargas P, Dupichaud S, Jeanpierre M, Vinit A, Zarhrate M, Masson C, Aladjidi N, Arkwright PD, Bader-Meunier B, Baron Joly S, Benadiba J, Bernard E, Berrebi D, Bodemer C, Castelle M, Charbit-Henrion F, Chbihi M, Debray A, Drabent P, Fraitag S, Hié M, Landman-Parker J, Lhermitte L, Moshous D, Rohrlich P, Ruemmele F, Welfringer-Morin A, Tusseau M, Belot A, Cerf-Bensussan N, Roelens M, Picard C, Neven B, Fischer A, Callebaut I, Ménager M, Sepulveda FE, Adam F, Rieux-Laucat F. Boussard C, et al. Among authors: masson c. Blood. 2023 Jun 1;141(22):2713-2726. doi: 10.1182/blood.2022018486. Blood. 2023. PMID: 36952639 Free article.
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. Cavallin M, et al. Among authors: masson c. Neurogenetics. 2016 Jan;17(1):79-82. doi: 10.1007/s10048-015-0459-8. Epub 2015 Sep 19. Neurogenetics. 2016. PMID: 26384676 No abstract available.
Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling.
Le TL, Sribudiani Y, Dong X, Huber C, Kois C, Baujat G, Gordon CT, Mayne V, Galmiche L, Serre V, Goudin N, Zarhrate M, Bole-Feysot C, Masson C, Nitschké P, Verheijen FW, Pais L, Pelet A, Sadedin S, Pugh JA, Shur N, White SM, El Chehadeh S, Christodoulou J, Cormier-Daire V, Hofstra RMW, Lyonnet S, Tan TY, Attié-Bitach T, Kerstjens-Frederikse WS, Amiel J, Thomas S. Le TL, et al. Among authors: masson c. Am J Hum Genet. 2020 Jun 4;106(6):779-792. doi: 10.1016/j.ajhg.2020.04.010. Epub 2020 May 14. Am J Hum Genet. 2020. PMID: 32413283 Free PMC article.
Prenatal-onset of congenital neuronal ceroid lipofuscinosis with a novel CTSD mutation.
Chartier S, Boutaud L, Le Guillou E, Alby C, Billon C, Millischer AE, Caillaud C, Galmiche L, Mechler C, Sonigo P, Boddaert N, Lyonnet S, Rondeau S, Bole-Feysot C, Masson C, Ville Y, Roth P, Desguerre I, Encha-Razavi F, Attie-Bitach T. Chartier S, et al. Among authors: masson c. Birth Defects Res. 2021 Nov;113(18):1324-1332. doi: 10.1002/bdr2.1950. Epub 2021 Sep 7. Birth Defects Res. 2021. PMID: 34491000
Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears.
Gordon CT, Petit F, Kroisel PM, Jakobsen L, Zechi-Ceide RM, Oufadem M, Bole-Feysot C, Pruvost S, Masson C, Tores F, Hieu T, Nitschké P, Lindholm P, Pellerin P, Guion-Almeida ML, Kokitsu-Nakata NM, Vendramini-Pittoli S, Munnich A, Lyonnet S, Holder-Espinasse M, Amiel J. Gordon CT, et al. Among authors: masson c. Am J Hum Genet. 2013 Dec 5;93(6):1118-25. doi: 10.1016/j.ajhg.2013.10.023. Epub 2013 Nov 21. Am J Hum Genet. 2013. PMID: 24268655 Free PMC article.
643 results