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Page 1
De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivity.
Tessarech M, Friocourt G, Marguet F, Lecointre M, Le Mao M, Díaz RM, Mignot C, Keren B, Héron B, De Bie C, Van Gassen K, Loisel D, Delorme B, Syrbe S, Klabunde-Cherwon A, Jamra RA, Wegler M, Callewaert B, Dheedene A, Zidane-Marinnes M, Guichet A, Bris C, Van Bogaert P, Biquard F, Lenaers G, Marcorelles P, Ferec C, Gonzalez B, Procaccio V, Vitobello A, Bonneau D, Laquerriere A, Khiati S, Colin E. Tessarech M, et al. Among authors: marcorelles p. Genet Med. 2024 May;26(5):101087. doi: 10.1016/j.gim.2024.101087. Epub 2024 Jan 27. Genet Med. 2024. PMID: 38288683 Free article.
Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly.
Herbst C, Bothe V, Wegler M, Axer-Schaefer S, Audebert-Bellanger S, Gecz J, Cogne B, Feldman HB, Horn AHC, Hurst ACE, Kelly MA, Kruer MC, Kurolap A, Laquerriere A, Li M, Mark PR, Morawski M, Nizon M, Pastinen T, Polster T, Saugier-Veber P, SeSong J, Sticht H, Stieler JT, Thifffault I, van Eyk CL, Marcorelles P, Vezain-Mouchard M, Abou Jamra R, Oppermann H. Herbst C, et al. Among authors: marcorelles p. Hum Genet. 2024 Mar;143(3):455-469. doi: 10.1007/s00439-024-02655-4. Epub 2024 Mar 25. Hum Genet. 2024. PMID: 38526744 Free PMC article.
RET and GDNF mutations are rare in fetuses with renal agenesis or other severe kidney development defects.
Jeanpierre C, Macé G, Parisot M, Morinière V, Pawtowsky A, Benabou M, Martinovic J, Amiel J, Attié-Bitach T, Delezoide AL, Loget P, Blanchet P, Gaillard D, Gonzales M, Carpentier W, Nitschke P, Tores F, Heidet L, Antignac C, Salomon R; Société Française de Foetopathologie. Jeanpierre C, et al. J Med Genet. 2011 Jul;48(7):497-504. doi: 10.1136/jmg.2010.088526. Epub 2011 Apr 13. J Med Genet. 2011. PMID: 21490379 Free article.
The wide spectrum of tubulinopathies: what are the key features for the diagnosis?
Bahi-Buisson N, Poirier K, Fourniol F, Saillour Y, Valence S, Lebrun N, Hully M, Bianco CF, Boddaert N, Elie C, Lascelles K, Souville I; LIS-Tubulinopathies Consortium; Beldjord C, Chelly J. Bahi-Buisson N, et al. Brain. 2014 Jun;137(Pt 6):1676-700. doi: 10.1093/brain/awu082. Brain. 2014. PMID: 24860126
Defining the landscape of TIA1 and SQSTM1 digenic myopathy.
Panos-Basterra P, Theuriet J, Nadaj-Pakleza A, Magot A, Lannes B, Marcorelles P, Behin A, Masingue M, Caillon F, Malek Y, Fenouil T, Bas J, Menassa R, Michel-Calemard L, Streichenberger N, Simon JP, Bouhour F, Evangelista T, Métay C, Pegat A, Stojkovic T, Fernández-Eulate G. Panos-Basterra P, et al. Among authors: marcorelles p. Neuromuscul Disord. 2024 Sep;42:43-52. doi: 10.1016/j.nmd.2024.07.008. Epub 2024 Jul 24. Neuromuscul Disord. 2024. PMID: 39142003
Descriptive epidemiology of 399 histologically confirmed newly diagnosed meningeal solitary fibrous tumours and haemangiopericytomas in France: 2006-2015.
Champeaux Depond C, Zouaoui S, Darlix A, Rigau V, Mathieu-Daudé H, Bauchet F, Khettab M, Trétarre B, Figarella-Branger D, Taillandier L, Boetto J, Pallud J, Peyre M, Lottin M, Bauchet L; French Brain Tumour DataBase (FBTDB) Participants and Investigators with the participation of the Société française de neurochirurgie (SFNC), Club de neuro-oncologie de la société française de neurochirurgie, Société française de neuropathologie (SFNP), Association des neuro-oncologues d’expression française (ANOCEF). Champeaux Depond C, et al. Acta Neurochir (Wien). 2024 Aug 2;166(1):320. doi: 10.1007/s00701-024-06191-y. Acta Neurochir (Wien). 2024. PMID: 39093339
Descriptive epidemiology of 30,223 histopathologically confirmed meningiomas in France: 2006-2015.
Depond CC, Zouaoui S, Darlix A, Rigau V, Mathieu-Daudé H, Bauchet F, Khettab M, Trétarre B, Figarella-Branger D, Taillandier L, Boetto J, Pallud J, Zemmoura I, Roche PH, Bauchet L; French Brain Tumour DataBase (FBTDB) Participants, Investigators with the participation of the Société française de neurochirurgie (SFNC); Club de neuro-oncologie de la société française de neurochirurgie, Société française de neuropathologie (SFNP); Association des neuro-oncologues d’expression française (ANOCEF). Depond CC, et al. Acta Neurochir (Wien). 2024 May 14;166(1):214. doi: 10.1007/s00701-024-06093-z. Acta Neurochir (Wien). 2024. PMID: 38740641
194 results