Development, behaviour and sensory processing in Marshall-Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes

Autor: Inge B. Mathijssen, Claire G. Salter, J M van Hagen, Tara Montgomery, Manuela Priolo, T. E. Neumann, Charles Shaw-Smith, I. H. Acero, Raoul C.M. Hennekam, L. Pintomalli, Fernando Santos-Simarro, Christine Coubes, Maria Iascone, Leonie A. Menke, Nursel Elcioglu, M. Zollino, Ghayda M. Mirzaa, Shane McKee, Rajesh V. Thakker, S. Piening, I. Dapia, C. Mammì, Arveen Kamath, Jair Tenorio, Emilia K. Bijlsma, Pierre Sarda, W. W. Dunn, Denny Schanze, Paul A. Mulder, Pablo Lapunzina, Martin Zenker, A. van Haeringen, Laura Bernardini, Jan Liebelt, N. Di Donato, Dorothee Neubauer, Jill A. Fahrner, Alison Foster, Sally Ann Lynch, Sue Price, A. M. Landlust, Sally J. Davies, N. G. González, I. Huber, Rita Valdez, I. D. C. van Balkom, Maria Antonietta Pisanti, Saskia M. Maas, Sarah F. Smithson, Pedro Arias, Mohnish Suri, Mabel Segovia, Kreepa Kooblall, Katrina Tatton-Brown, Trevor Cole, A. S. Plomp, Ann Sophie Kaiser, Fowzan S. Alkuraya

Publikováno v: J Intellect Disabil Res
Mulder, P A, van Balkom, I D C, Landlust, A M, Priolo, M, Menke, L A, Acero, I H, Alkuraya, F S, Arias, P, Bernardini, L, Bijlsma, E K, Cole, T, Coubes, C, Dapia, I, Davies, S, di Donato, N, Elcioglu, N H, Fahrner, J A, Foster, A, González, N G, Huber, I, Iascone, M, Kaiser, A S, Kamath, A, Kooblall, K, Lapunzina, P, Liebelt, J, Lynch, S A, Maas, S M, Mammì, C, Mathijssen, I B, McKee, S, Mirzaa, G M, Montgomery, T, Neubauer, D, Neumann, T E, Pintomalli, L, Pisanti, M A, Plomp, A S, 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, R V, Valdez, R M, van Haeringen, A, van Hagen, J M, Zenker, M, Zollino, M, Dunn, W W, Piening, S & Hennekam, R C 2020, ' Development, behaviour and sensory processing in Marshall–Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes ', Journal of Intellectual Disability Research, vol. 64, no. 12, pp. 956-969 . https://doi.org/10.1111/jir.12787
Journal of Intellectual Disability Research, 64(12), 956-969. Wiley-Blackwell
Journal of Intellectual Disability Research, 64(12), 956-969. WILEY
Journal of intellectual disability research, 64(12), 956-969. Wiley-Blackwell

BACKGROUND: Ultrarare Marshall-Smith and Malan syndromes, caused by changes of the gene nuclear factor I X (NFIX), are characterised by intellectual disability (ID) and behavioural problems, although questions remain. Here, development and behaviour

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5de6be3c9250c5a8b430e944ce44d898
https://pubmed.ncbi.nlm.nih.gov/33034087

Mechanism of solvolysis of 1-(1-adamantyl)ethyl sulfonates

Autor: Vernon J. Shiner, T. E. Neumann, F. P. Wilgis

Publikováno v: Journal of the American Chemical Society. 112:4435-4446

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::031b06a9016711b07d0abaa8585ccbb3
https://doi.org/10.1021/ja00167a048

ChemInform Abstract: Mechanism of Solvolysis of 1-(1-Adamantyl)ethyl Sulfonates

Autor: T. E. Neumann, V. J. Jun. Shiner, Ford P. Wilgis

Publikováno v: ChemInform. 21

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::8721d80c32274aecffce698721816f0b
https://doi.org/10.1002/chin.199038125

Arbuscular Mycorrhiza Fungi Enhance the Growth, Yield, and Quality of Medicinal Mondo Grass (Ophiopogon japonicus (L.f.) Ker - Gawl.) under Rainfed Conditions.

Autor: Nguyen Thi Thanh Hai, Bui The Khuynh, Ninh Thi Phip, Nguyen Dinh Vinh, Dinh Thai Hoang

Publikováno v: Journal of Ecological Engineering; 2024, Vol. 25 Issue 6, p90-98, 9p

Novel mutations in the gene SALL4 provide further evidence for acro-renal-ocular and Okihiro syndromes being allelic entities, and extend the phenotypic spectrum

Autor: J Kohlhase, Yanick J. Crow, Michael Wright, Raoul C.M. Hennekam, T E Neumann, W Borozdin, Mark C. Hannibal

Publikováno v: Scopus-Elsevier
Journal of medical genetics, 41(8). BMJ Publishing Group

The SALL genes, similar to the Drosophila gene spalt ,1 encode likely zinc finger transcription factors. In humans, four such genes have been identified to date. Mutations in the gene SALL1 on chromosome 16q12.1 have been associated with Townes-Brock

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c54b957c858a916e0be5d6e6f0c2b0b
http://www.scopus.com/inward/record.url?eid=2-s2.0-16544392649&partnerID=MN8TOARS