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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 1
2006 1
2012 3
2013 1
2014 2
2015 2
2016 2
2017 3
2018 3
2019 1
2020 2
2021 3
2022 3
2023 1
2024 0

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25 results

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Page 1
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.
van der Sluijs PJ, Joosten M, Alby C, Attié-Bitach T, Gilmore K, Dubourg C, Fradin M, Wang T, Kurtz-Nelson EC, Ahlers KP, Arts P, Barnett CP, Ashfaq M, Baban A, van den Born M, Borrie S, Busa T, Byrne A, Carriero M, Cesario C, Chong K, Cueto-González AM, Dempsey JC, Diderich KEM, Doherty D, Farholt S, Gerkes EH, Gorokhova S, Govaerts LCP, Gregersen PA, Hickey SE, Lefebvre M, Mari F, Martinovic J, Northrup H, O'Leary M, Parbhoo K, Patrier S, Popp B, Santos-Simarro F, Stoltenburg C, Thauvin-Robinet C, Thompson E, Vulto-van Silfhout AT, Zahir FR, Scott HS, Earl RK, Eichler EE, Vora NL, Wilnai Y, Giordano JL, Wapner RJ, Rosenfeld JA, Haak MC, Santen GWE. van der Sluijs PJ, et al. Among authors: alby c. Genet Med. 2022 Aug;24(8):1753-1760. doi: 10.1016/j.gim.2022.04.010. Epub 2022 May 18. Genet Med. 2022. PMID: 35579625 Free PMC article.
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.
van der Sluijs PJ, Joosten M, Alby C, Attié-Bitach T, Gilmore K, Dubourg C, Fradin M, Wang T, Kurtz-Nelson EC, Ahlers KP, Arts P, Barnett CP, Ashfaq M, Baban A, van den Born M, Borrie S, Busa T, Byrne A, Carriero M, Cesario C, Chong K, Cueto-González AM, Dempsey JC, Diderich KEM, Doherty D, Farholt S, Gerkes EH, Gorokhova S, Govaerts LCP, Gregersen PA, Hickey SE, Lefebvre M, Mari F, Martinovic J, Northrup H, O'Leary M, Parbhoo K, Patrier S, Popp B, Santos-Simarro F, Stoltenburg C, Thauvin-Robinet C, Thompson E, Vulto-van Silfhout AT, Zahir FR, Scott HS, Earl RK, Eichler EE, Vora NL, Wilnai Y, Giordano JL, Wapner RJ, Rosenfeld JA, Haak MC, Santen GWE. van der Sluijs PJ, et al. Among authors: alby c. Genet Med. 2023 Feb;25(2):100004. doi: 10.1016/j.gim.2022.100004. Genet Med. 2023. PMID: 36745127 Free PMC article. No abstract available.
[Sjögren syndrome in Obstetric and Gynecology: literature review].
Picone O, Alby C, Frydman R, Mariette X. Picone O, et al. Among authors: alby c. J Gynecol Obstet Biol Reprod (Paris). 2006 Apr;35(2):169-75. doi: 10.1016/s0368-2315(06)76391-8. J Gynecol Obstet Biol Reprod (Paris). 2006. PMID: 16575363 Free article. Review. French.
TCTN3 mutations cause Mohr-Majewski syndrome.
Thomas S, Legendre M, Saunier S, Bessières B, Alby C, Bonnière M, Toutain A, Loeuillet L, Szymanska K, Jossic F, Gaillard D, Yacoubi MT, Mougou-Zerelli S, David A, Barthez MA, Ville Y, Bole-Feysot C, Nitschke P, Lyonnet S, Munnich A, Johnson CA, Encha-Razavi F, Cormier-Daire V, Thauvin-Robinet C, Vekemans M, Attié-Bitach T. Thomas S, et al. Among authors: alby c. Am J Hum Genet. 2012 Aug 10;91(2):372-8. doi: 10.1016/j.ajhg.2012.06.017. Am J Hum Genet. 2012. PMID: 22883145 Free PMC article.
Corrigendum: TALPID3/KIAA0586 Regulates Multiple Aspects of Neuromuscular Patterning During Gastrointestinal Development in Animal Models and Human.
Delalande JM, Nagy N, McCann CJ, Natarajan D, Cooper JE, Carreno G, Dora D, Campbell A, Laurent N, Kemos P, Thomas S, Alby C, Attié-Bitach T, Lyonnet S, Logan MP, Goldstein AM, Davey MG, Hofstra RMW, Thapar N, Burns AJ. Delalande JM, et al. Among authors: alby c. Front Mol Neurosci. 2022 Apr 29;15:871557. doi: 10.3389/fnmol.2022.871557. eCollection 2022. Front Mol Neurosci. 2022. PMID: 35571366 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: alby 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
TALPID3/KIAA0586 Regulates Multiple Aspects of Neuromuscular Patterning During Gastrointestinal Development in Animal Models and Human.
Delalande JM, Nagy N, McCann CJ, Natarajan D, Cooper JE, Carreno G, Dora D, Campbell A, Laurent N, Kemos P, Thomas S, Alby C, Attié-Bitach T, Lyonnet S, Logan MP, Goldstein AM, Davey MG, Hofstra RMW, Thapar N, Burns AJ. Delalande JM, et al. Among authors: alby c. Front Mol Neurosci. 2021 Dec 23;14:757646. doi: 10.3389/fnmol.2021.757646. eCollection 2021. Front Mol Neurosci. 2021. PMID: 35002618 Free PMC article.
Phenotypic Variability with SLURP1 Mutations and Diffuse Palmoplantar Keratoderma.
Harjama L, Kettunen K, Elomaa O, Einarsdottir E, Heikkilä H, Kivirikko S, Lappalainen K, Saarela J, Alby C, Ranki A, Kere J, Hadj-Rabia S, Hannula-Jouppi K. Harjama L, et al. Among authors: alby c. Acta Derm Venereol. 2020 Feb 25;100(4):adv00060. doi: 10.2340/00015555-3404. Acta Derm Venereol. 2020. PMID: 31944258 Free PMC article. No abstract available.
25 results