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181 results

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Page 1
Further delineation of Malan syndrome.
Priolo M, Schanze D, Tatton-Brown K, Mulder PA, Tenorio J, Kooblall K, Acero IH, Alkuraya FS, Arias P, Bernardini L, Bijlsma EK, Cole T, Coubes C, Dapia I, Davies S, Di Donato N, Elcioglu NH, Fahrner JA, Foster A, González NG, Huber I, Iascone M, Kaiser AS, Kamath A, Liebelt J, Lynch SA, Maas SM, Mammì C, Mathijssen IB, McKee S, Menke LA, Mirzaa GM, Montgomery T, Neubauer D, Neumann TE, Pintomalli L, Pisanti MA, Plomp AS, Price S, Salter C, Santos-Simarro F, Sarda P, Segovia M, Shaw-Smith C, Smithson S, Suri M, Valdez RM, Van Haeringen A, Van Hagen JM, Zollino M, Lapunzina P, Thakker RV, Zenker M, Hennekam RC. Priolo M, et al. Among authors: salter c. Hum Mutat. 2018 Sep;39(9):1226-1237. doi: 10.1002/humu.23563. Epub 2018 Jun 25. Hum Mutat. 2018. PMID: 29897170 Free PMC article.
Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.
Zawerton A, Mignot C, Sigafoos A, Blackburn PR, Haseeb A, McWalter K, Ichikawa S, Nava C, Keren B, Charles P, Marey I, Tabet AC, Levy J, Perrin L, Hartmann A, Lesca G, Schluth-Bolard C, Monin P, Dupuis-Girod S, Guillen Sacoto MJ, Schnur RE, Zhu Z, Poisson A, El Chehadeh S, Alembik Y, Bruel AL, Lehalle D, Nambot S, Moutton S, Odent S, Jaillard S, Dubourg C, Hilhorst-Hofstee Y, Barbaro-Dieber T, Ortega L, Bhoj EJ, Masser-Frye D, Bird LM, Lindstrom K, Ramsey KM, Narayanan V, Fassi E, Willing M, Cole T, Salter CG, Akilapa R, Vandersteen A, Canham N, Rump P, Gerkes EH, Klein Wassink-Ruiter JS, Bijlsma E, Hoffer MJV, Vargas M, Wojcik A, Cherik F, Francannet C, Rosenfeld JA, Machol K, Scott DA, Bacino CA, Wang X, Clark GD, Bertoli M, Zwolinski S, Thomas RH, Akay E, Chang RC, Bressi R, Sanchez Russo R, Srour M, Russell L, Goyette AE, Dupuis L, Mendoza-Londono R, Karimov C, Joseph M, Nizon M, Cogné B, Kuechler A, Piton A; Deciphering Developmental Disorder Study; Klee EW, Lefebvre V, Clark KJ, Depienne C. Zawerton A, et al. Among authors: salter cg. Genet Med. 2020 Mar;22(3):524-537. doi: 10.1038/s41436-019-0657-0. Epub 2019 Oct 3. Genet Med. 2020. PMID: 31578471 Free PMC article.
Development, behaviour and sensory processing in Marshall-Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes.
Mulder PA, van Balkom IDC, Landlust AM, Priolo M, Menke LA, Acero IH, Alkuraya FS, Arias P, Bernardini L, Bijlsma EK, Cole T, Coubes C, Dapia I, Davies S, Di Donato N, Elcioglu NH, Fahrner JA, Foster A, González NG, Huber I, Iascone M, Kaiser AS, Kamath A, Kooblall K, Lapunzina P, Liebelt J, Lynch SA, Maas SM, Mammì C, Mathijssen IB, McKee S, Mirzaa GM, Montgomery T, Neubauer D, Neumann TE, Pintomalli L, Pisanti MA, Plomp AS, Price S, Salter C, Santos-Simarro F, Sarda P, Schanze D, Segovia M, Shaw-Smith C, Smithson S, Suri M, Tatton-Brown K, Tenorio J, Thakker RV, Valdez RM, Van Haeringen A, Van Hagen JM, Zenker M, Zollino M, Dunn WW, Piening S, Hennekam RC. Mulder PA, et al. Among authors: salter c. J Intellect Disabil Res. 2020 Dec;64(12):956-969. doi: 10.1111/jir.12787. Epub 2020 Oct 9. J Intellect Disabil Res. 2020. PMID: 33034087 Free PMC article.
Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging.
Jeffries AR, Maroofian R, Salter CG, Chioza BA, Cross HE, Patton MA, Dempster E, Temple IK, Mackay DJG, Rezwan FI, Aksglaede L, Baralle D, Dabir T, Hunter MF, Kamath A, Kumar A, Newbury-Ecob R, Selicorni A, Springer A, Van Maldergem L, Varghese V, Yachelevich N, Tatton-Brown K, Mill J, Crosby AH, Baple EL. Jeffries AR, et al. Genome Res. 2019 Jul;29(7):1057-1066. doi: 10.1101/gr.243584.118. Epub 2019 Jun 3. Genome Res. 2019. PMID: 31160375 Free PMC article.
Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice.
Muggenthaler MM, Chowdhury B, Hasan SN, Cross HE, Mark B, Harlalka GV, Patton MA, Ishida M, Behr ER, Sharma S, Zahka K, Faqeih E, Blakley B, Jackson M, Lees M, Dolinsky V, Cross L, Stanier P, Salter C, Baple EL, Alkuraya FS, Crosby AH, Triggs-Raine B, Chioza BA. Muggenthaler MM, et al. Among authors: salter c. PLoS Genet. 2017 Jan 12;13(1):e1006470. doi: 10.1371/journal.pgen.1006470. eCollection 2017 Jan. PLoS Genet. 2017. PMID: 28081210 Free PMC article.
Further defining the phenotypic spectrum of B4GALT7 mutations.
Salter CG, Davies JH, Moon RJ, Fairhurst J, Bunyan D; DDD Study; Foulds N. Salter CG, et al. Am J Med Genet A. 2016 Jun;170(6):1556-63. doi: 10.1002/ajmg.a.37604. Epub 2016 Mar 4. Am J Med Genet A. 2016. PMID: 26940150
Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization.
Wang H, Salter CG, Refai O, Hardy H, Barwick KES, Akpulat U, Kvarnung M, Chioza BA, Harlalka G, Taylan F, Sejersen T, Wright J, Zimmerman HH, Karakaya M, Stüve B, Weis J, Schara U, Russell MA, Abdul-Rahman OA, Chilton J, Blakely RD, Baple EL, Cirak S, Crosby AH. Wang H, et al. Brain. 2017 Nov 1;140(11):2838-2850. doi: 10.1093/brain/awx249. Brain. 2017. PMID: 29088354 Free PMC article.
Delineating the expanding phenotype associated with SCAPER gene mutation.
Fasham J, Arno G, Lin S, Xu M, Carss KJ, Hull S, Lane A, Robson AG, Wenger O, Self JE, Harlalka GV, Salter CG, Schema L, Moss TJ, Cheetham ME, Moore AT, Raymond FL, Chen R, Baple EL, Webster AR, Crosby AH; NIHR Bioresource Rare Diseases Consortium. Fasham J, et al. Am J Med Genet A. 2019 Aug;179(8):1665-1671. doi: 10.1002/ajmg.a.61202. Epub 2019 Jun 13. Am J Med Genet A. 2019. PMID: 31192531 Free PMC article. No abstract available.
181 results