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

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

<p><strong>BACKGROUND:</strong> 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 are studied...

Cur síos iomlán

Sonraí bibleagrafaíochta
Príomhchruthaitheoirí:	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, A-S, Kamath, A, Kooblall, KG, 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
Formáid:	Journal article
Teanga:	English
Foilsithe / Cruthaithe:	Wiley 2020

Míreanna comhchosúla

Natural history in Malan syndrome: survey of 28 adults and literature review
de réir: T. N. Huynh, et al.
Foilsithe / Cruthaithe: (2024-07-01)

Profiling Cognitive and Social Functioning in a Small Cohort with Malan Syndrome
de réir: Niccolò Butti, et al.
Foilsithe / Cruthaithe: (2025-01-01)

Understanding Behavior in Phelan-McDermid Syndrome
de réir: Annemiek M. Landlust, et al.
Foilsithe / Cruthaithe: (2022-05-01)

Edmondo Malan
de réir: Giovanni B. Agus
Foilsithe / Cruthaithe: (2020-09-01)

Charles Wynand Malan (1945–2011)
de réir: P. H. Roodt
Foilsithe / Cruthaithe: (2017-04-01)

Bos (Malan Steyn)
de réir: Mathilda Smit
Foilsithe / Cruthaithe: (2020-11-01)

Case Report: Novel pathogenic variant in NFIX in two sisters with Malan syndrome due to germline mosaicism
de réir: Elizabeth Langley, et al.
Foilsithe / Cruthaithe: (2022-11-01)

A deep phenotyping experience: up to date in management and diagnosis of Malan syndrome in a single center surveillance report
de réir: Marina Macchiaiolo, et al.
Foilsithe / Cruthaithe: (2022-06-01)

Malan syndrome (Sotos syndrome 2) in two patients with 19p13.2 deletion encompassing NFIX gene and novel NFIX sequence variant
de réir: Aleksandra Jezela-Stanek, et al.
Foilsithe / Cruthaithe: (2016-03-01)

David Huntingford Malan, DM. FRCPsych
de réir: Jennie Malan, et al.
Foilsithe / Cruthaithe: (2023-08-01)

Berhenti Malan Gaji Demi Jualan Langsung
de réir: Berita Harian, Dzulkifley Zanudin
Foilsithe / Cruthaithe: (2008)

P595: Novel molecular mechanism in Malan syndrome uncovered through detailed genome sequencing reanalysis, exon-level array and RNA-seq
de réir: Jian Zhao, et al.
Foilsithe / Cruthaithe: (2023-01-01)

The bibliophile and the Bodleian: Solomon Caesar Malan and his oriental library
de réir: Evison, G
Foilsithe / Cruthaithe: (2012)

Portfolio capital investment in Malaysia / Irfah Najihah Basir Malan
de réir: Basir Malan, Irfah Najihah
Foilsithe / Cruthaithe: (2010)

COVID-19: first and second wave impact on outpatient service users of FACT or autism teams in the Netherlands
de réir: S. Castelein, et al.
Foilsithe / Cruthaithe: (2022-06-01)

An ageing anachronism: D.F. Malan as prime minister, 1948-1954
de réir: Lindie Koorts
Foilsithe / Cruthaithe: (2010-11-01)

Malan syndrome in a patient with 19p13.2p13.12 deletion encompassing NFIX and CACNA1A genes: Case report and review of the literature
de réir: Fernanda T. Bellucco, et al.
Foilsithe / Cruthaithe: (2019-12-01)

Churchill’s British atomic relations with Malan’s government in South Africa, 1951-1954
de réir: Asuelime E. Lucky
Foilsithe / Cruthaithe: (2014-12-01)

Study on the Properties of Malan Loess in Lyuliang Area Under Freeze-thaw Cycles
de réir: Lingling ZHANG, et al.
Foilsithe / Cruthaithe: (2021-07-01)

Experimental study on the permeability characteristics and structure damage of Malan loess in Heifangtai area
de réir: Zekun Li, et al.
Foilsithe / Cruthaithe: (2022-11-01)

A flying Springbok of wartime British skies: A.G. 'Sailor' Malan
de réir: Bill Nasson
Foilsithe / Cruthaithe: (2009-11-01)

Hallermann&ndash;Streiff syndrome with severe bilateral enophthalmos and radiological evidence of silent brain syndrome: a new congenital silent brain syndrome?
de réir: Nucci P, et al.
Foilsithe / Cruthaithe: (2011-07-01)

Redefining the overtraining syndrome as the unexplained underperformance syndrome.
de réir: Budgett, R, et al.
Foilsithe / Cruthaithe: (2000)

Three-dimensional characterization and quantitative research of Malan loess microstructure under seismic loading
de réir: Tingting Wei, et al.
Foilsithe / Cruthaithe: (2023-01-01)

Venous Thoracic Outlet Syndrome
de réir: M. P. M. Gielens, et al.
Foilsithe / Cruthaithe: (2015-06-01)

Review of 23 patients affected by the stiff man syndrome: clinical subdivision into stiff trunk (man) syndrome, stiff limb syndrome, and progressive encephalomyelitis with rigidity.
de réir: Barker, R, et al.
Foilsithe / Cruthaithe: (1998)

The syndrome of symptomatic adult acetabular dysplasia (SAAD syndrome)
de réir: Birrell, F, et al.
Foilsithe / Cruthaithe: (2001)

Growth deficiency in a mouse model of Kabuki syndrome 2 bears mechanistic similarities to Kabuki syndrome 1.
de réir: Christine W Gao, et al.
Foilsithe / Cruthaithe: (2024-06-01)

Dystonia in Costello syndrome.
de réir: Dileone, M, et al.
Foilsithe / Cruthaithe: (2012)

Pollen-food allergy syndrome and lipid transfer protein syndrome: Clinical relevance
de réir: P C Kathuria, et al.
Foilsithe / Cruthaithe: (2021-01-01)

Lumping Juberg-Marsidi syndrome and X-linked alpha-thalassemia/mental retardation syndrome?
de réir: Saugier-Veber, P, et al.
Foilsithe / Cruthaithe: (1995)

Sistem Informasi Akademik Berbasis Web Pada SMAN-1 Pulau Malan Kabupaten Katingan
de réir: Jadiaman Parhusip, et al.
Foilsithe / Cruthaithe: (2018-09-01)

The “I” as Implicated Subject: Performative Confession in Rian Malan’s <i>My Traitor’s Heart</i>
de réir: Jihie Moon
Foilsithe / Cruthaithe: (2024-07-01)

«A traveller’s tales»: prassi disegnativa e teorie estetiche di Solomon Caesar Malan
de réir: Dodi, Elena
Foilsithe / Cruthaithe: (2023-12-01)

Die lewensbeskouing van D.F. Malan (1874–1959) soos weerspieël in openbare standpunte
de réir: Piet J. Strauss
Foilsithe / Cruthaithe: (2021-08-01)

Anton’s Syndrome following Callosal Disconnection
de réir: J. Abutalebi, et al.
Foilsithe / Cruthaithe: (2007-01-01)

The stiff leg syndrome.
de réir: Brown, P, et al.
Foilsithe / Cruthaithe: (1997)

Tracheobronchial calcification associated with Keutel syndrome
de réir: Nihal Ozdemir, et al.
Foilsithe / Cruthaithe: (2006-10-01)

Syndrome of symptomatic adult acetabular dysplasia (SAAD syndrome).
de réir: Birrell, F, et al.
Foilsithe / Cruthaithe: (2003)

Severe Hypernatremia as Presentation of Netherton Syndrome
de réir: A. Di Nora, et al.
Foilsithe / Cruthaithe: (2023-12-01)