157 related articles for article (PubMed ID: 38647663)
1. 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]
2. 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]
3. A rare cause of intellectual disability: Novel mutations of NFIX gene in two patients with clinical features of Marshall-Smith syndrome and Malan syndrome.
Uzman CY; Gürsoy S; Hazan F
Int J Dev Neurosci; 2023 Aug; 83(5):479-485. PubMed ID: 37336770
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Fronto-orbital advancement in a patient with Marshall-Smith syndrome: a case report and review of the literature.
Knie B; Morota N; Ihara S; Tamada I
Childs Nerv Syst; 2021 Feb; 37(2):677-682. PubMed ID: 32617711
[TBL] [Abstract][Full Text] [Related]
6. Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes.
Martinez F; Marín-Reina P; Sanchis-Calvo A; Perez-Aytés A; Oltra S; Roselló M; Mayo S; Monfort S; Pantoja J; Orellana C
Pediatr Res; 2015 Nov; 78(5):533-9. PubMed ID: 26200704
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome.
Malan V; Rajan D; Thomas S; Shaw AC; Louis Dit Picard H; Layet V; Till M; van Haeringen A; Mortier G; Nampoothiri S; Puseljić S; Legeai-Mallet L; Carter NP; Vekemans M; Munnich A; Hennekam RC; Colleaux L; Cormier-Daire V
Am J Hum Genet; 2010 Aug; 87(2):189-98. PubMed ID: 20673863
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. Treatment of refractory hip pain with sodium hyaluronate (Hyalgan(c)) in a patient with the Marshall-Smith Syndrome: A case report.
Salter M; Kalmat C; Kroll H; Kim D
J Orthop Surg Res; 2010 Aug; 5():61. PubMed ID: 20731866
[TBL] [Abstract][Full Text] [Related]
12. [A case of Marshall-Smith syndrome].
Watanabe Y; Tanaka Y; Umemura N; Koitabashi T
Masui; 2003 Aug; 52(8):860-2. PubMed ID: 13677277
[TBL] [Abstract][Full Text] [Related]
13. Novel molecular mechanism in Malan syndrome uncovered through genome sequencing reanalysis, exon-level Array, and RNA sequencing.
Zhao J; Longo N; Lewis RG; Nicholas TJ; Boyden SE; Andrews A; Larson A; ; Bayrak-Toydemir P; Botto LD; Mao R
Am J Med Genet A; 2024 May; 194(5):e63516. PubMed ID: 38168088
[TBL] [Abstract][Full Text] [Related]
14. NFIX mutations affecting the DNA-binding domain cause a peculiar overgrowth syndrome (Malan syndrome): a new patients series.
Gurrieri F; Cavaliere ML; Wischmeijer A; Mammì C; Neri G; Pisanti MA; Rodella G; Laganà C; Priolo M
Eur J Med Genet; 2015 Sep; 58(9):488-91. PubMed ID: 26193383
[TBL] [Abstract][Full Text] [Related]
15. Marshall-Smith syndrome: Novel pathogenic variant and previously unreported associations with precocious puberty and aortic root dilatation.
Aggarwal A; Nguyen J; Rivera-Davila M; Rodriguez-Buritica D
Eur J Med Genet; 2017 Jul; 60(7):391-394. PubMed ID: 28442439
[TBL] [Abstract][Full Text] [Related]
16. Marshall-Smith syndrome: case report of a newborn male and review of the literature.
Summers DA; Cooper HA; Butler MG
Clin Dysmorphol; 1999 Jul; 8(3):207-10. PubMed ID: 10457856
[TBL] [Abstract][Full Text] [Related]
17. Anaesthetic management of a child with Marshall-Smith syndrome.
Dernedde G; Pendeville P; Veyckemans F; Verellen G; Gillerot Y
Can J Anaesth; 1998 Jul; 45(7):660-3. PubMed ID: 9717599
[TBL] [Abstract][Full Text] [Related]
18. Marshall-Smith syndrome: natural history and evidence of an osteochondrodysplasia with connective tissue abnormalities.
Adam MP; Hennekam RC; Keppen LD; Bull MJ; Clericuzio CL; Burke LW; Ormond KE; Hoyme EH
Am J Med Genet A; 2005 Aug; 137(2):117-24. PubMed ID: 16086394
[TBL] [Abstract][Full Text] [Related]
19. Case of partial trisomy 2q3 with clinical manifestations of Marshall-Smith syndrome.
Seidahmed MZ; Rooney DE; Salih MA; Basit OB; Shaheed MM; Abdullah MA; Abomelha A
Am J Med Genet; 1999 Jul; 85(2):185-8. PubMed ID: 10406675
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
