148 related articles for article (PubMed ID: 21790824)
21. Decision support methods for finding phenotype--disorder associations in the bone dysplasia domain.
Paul R; Groza T; Hunter J; Zankl A
PLoS One; 2012; 7(11):e50614. PubMed ID: 23226331
[TBL] [Abstract][Full Text] [Related]
22. Identification of cellular retinoic acid binding protein 2 (CRABP2) as downstream target of nuclear factor I/X (NFIX): implications for skeletal dysplasia syndromes.
Kooblall KG; Stevenson M; Heilig R; Stewart M; Wright B; Lockstone H; Buck D; Fischer R; Wells S; Lines KE; Teboul L; Hennekam RC; Thakker RV
JBMR Plus; 2024 Jul; 8(7):ziae060. PubMed ID: 38827116
[TBL] [Abstract][Full Text] [Related]
23. Management of an older Marshall-Smith syndrome patient: a review of literature of MSS and craniosynostosis.
Khurana E; Orth J; Pletcher B; Turbin RE; Mazzola CA
Childs Nerv Syst; 2024 Apr; ():. PubMed ID: 38647663
[TBL] [Abstract][Full Text] [Related]
24. A Mouse Model with a Frameshift Mutation in the Nuclear Factor I/X (
Kooblall KG; Stevenson M; Stewart M; Harris L; Zalucki O; Dewhurst H; Butterfield N; Leng H; Hough TA; Ma D; Siow B; Potter P; Cox RD; Brown SDM; Horwood N; Wright B; Lockstone H; Buck D; Vincent TL; Hannan FM; Bassett JHD; Williams GR; Lines KE; Piper M; Wells S; Teboul L; Hennekam RC; Thakker RV
JBMR Plus; 2023 Jun; 7(6):e10739. PubMed ID: 37283649
[TBL] [Abstract][Full Text] [Related]
25. Characterization of Cognitive, Language and Adaptive Profiles of Children and Adolescents with Malan Syndrome.
Alfieri P; Macchiaiolo M; Collotta M; Montanaro FAM; Caciolo C; Cumbo F; Galassi P; Panfili FM; Cortellessa F; Zollino M; Accadia M; Seri M; Tartaglia M; Bartuli A; Mammì C; Vicari S; Priolo M
J Clin Med; 2022 Jul; 11(14):. PubMed ID: 35887841
[TBL] [Abstract][Full Text] [Related]
26. 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
J Intellect Disabil Res; 2020 Dec; 64(12):956-969. PubMed ID: 33034087
[TBL] [Abstract][Full Text] [Related]
27. Analysis of hippocampal-dependent learning and memory behaviour in mice lacking Nfix from adult neural stem cells.
Zalucki O; Harkins D; Harris L; Burne THJ; Gronostajski RM; Piper M
BMC Res Notes; 2018 Aug; 11(1):564. PubMed ID: 30081965
[TBL] [Abstract][Full Text] [Related]
28. 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
Hum Mutat; 2018 Sep; 39(9):1226-1237. PubMed ID: 29897170
[TBL] [Abstract][Full Text] [Related]
29. Genes with high penetrance for syndromic and non-syndromic autism typically function within the nucleus and regulate gene expression.
Casanova EL; Sharp JL; Chakraborty H; Sumi NS; Casanova MF
Mol Autism; 2016; 7():18. PubMed ID: 26985359
[TBL] [Abstract][Full Text] [Related]
30. Heterozygosity for nuclear factor one x affects hippocampal-dependent behaviour in mice.
Harris L; Dixon C; Cato K; Heng YH; Kurniawan ND; Ullmann JF; Janke AL; Gronostajski RM; Richards LJ; Burne TH; Piper M
PLoS One; 2013; 8(6):e65478. PubMed ID: 23776487
[TBL] [Abstract][Full Text] [Related]
31. Microduplication 22q11.2: a description of the clinical, developmental and behavioral characteristics during childhood.
Van Campenhout S; Devriendt K; Breckpot J; Frijns JP; Peeters H; Van Buggenhout G; Van Esch H; Maes B; Swillen A
Genet Couns; 2012; 23(2):135-48. PubMed ID: 22876571
[TBL] [Abstract][Full Text] [Related]
32. Malan syndrome: Extension of genotype and phenotype spectrum.
Rai A; Narayanan DL; Phadke SR
Am J Med Genet A; 2018 Dec; 176(12):2896-2900. PubMed ID: 30548146
[TBL] [Abstract][Full Text] [Related]
33. [Chromosome 22q11 deletion syndrome and its relevance for child and adolescent psychiatry. An overview of etiology, physical symptoms, aspects of child development and psychiatric disorders].
Briegel W; Cohen M
Z Kinder Jugendpsychiatr Psychother; 2004 May; 32(2):107-15. PubMed ID: 15181786
[TBL] [Abstract][Full Text] [Related]
34. Development and behaviour in Marshall-Smith syndrome: an exploratory study of cognition, phenotype and autism.
van Balkom ID; Shaw A; Vuijk PJ; Franssens M; Hoek HW; Hennekam RC
J Intellect Disabil Res; 2011 Oct; 55(10):973-87. PubMed ID: 21790824
[TBL] [Abstract][Full Text] [Related]
35. Development, cognition, and behaviour in Pitt-Hopkins syndrome.
Van Balkom ID; Vuijk PJ; Franssens M; Hoek HW; Hennekam RC
Dev Med Child Neurol; 2012 Oct; 54(10):925-31. PubMed ID: 22712893
[TBL] [Abstract][Full Text] [Related]
36. Deletions in the 3' part of the NFIX gene including a recurrent Alu-mediated deletion of exon 6 and 7 account for previously unexplained cases of Marshall-Smith syndrome.
Schanze D; Neubauer D; Cormier-Daire V; Delrue MA; Dieux-Coeslier A; Hasegawa T; Holmberg EE; Koenig R; Krueger G; Schanze I; Seemanova E; Shaw AC; Vogt J; Volleth M; Reis A; Meinecke P; Hennekam RC; Zenker M
Hum Mutat; 2014 Sep; 35(9):1092-100. PubMed ID: 24924640
[TBL] [Abstract][Full Text] [Related]
37.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
38.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
39.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
40.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Previous] [Next] [New Search]
