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Items: 1 to 20 of 111

1.

Marshall-Smith syndrome and septo-optic dysplasia: an unreported association.

Travan L, Oretti C, Zennaro F, Demarini S.

Am J Med Genet A. 2008 Aug 15;146A(16):2138-40. doi: 10.1002/ajmg.a.32430.

PMID:
18627063
2.

A pigmentary skin defect is a new finding in Marshall-Smith syndrome.

Passalacqua C, Melo C, Martín LM, Rojas F, Sanz P, Taucher SC, Aranibar L.

Am J Med Genet A. 2011 Aug;155A(8):2015-7. doi: 10.1002/ajmg.a.34076. Epub 2011 Jul 7.

PMID:
21739579
3.

Neonatal Marshall-Smith syndrome.

Gómez-Santos E, Lloreda-García JM, Fernández-Fructuoso JR, Martínez-Ferrández C, Leante-Castellanos JL, Fuentes-Gutiérrez C.

Clin Dysmorphol. 2014 Apr;23(2):42-4. doi: 10.1097/MCD.0000000000000031. No abstract available.

PMID:
24556605
4.

Neonatal death in Marshall-Smith syndrome.

Chatel C, Maazoul F, Sigaudy S, Fredouille C, Ayme S, Philip N.

Genet Couns. 1998;9(1):15-8.

PMID:
9555581
5.

Phenotype and natural history in Marshall-Smith syndrome.

Shaw AC, van Balkom ID, Bauer M, Cole TR, Delrue MA, Van Haeringen A, Holmberg E, Knight SJ, Mortier G, Nampoothiri S, Pušeljić S, Zenker M, Cormier-Daire V, Hennekam RC.

Am J Med Genet A. 2010 Nov;152A(11):2714-26. doi: 10.1002/ajmg.a.33709.

PMID:
20949508
6.

Marshall-Smith syndrome.

Herman TE, Siegel MJ.

J Perinatol. 2015 Apr;35(4):307-9. doi: 10.1038/jp.2014.224. No abstract available.

PMID:
25813678
7.

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. doi: 10.1016/j.ejmg.2017.04.012. Epub 2017 Apr 24.

PMID:
28442439
8.

[Anesthetic implications of Marshall-Smith syndrome].

Fernández Pérez AB, Quesada Garcia C, González Hernández O, Calvo Falcón R.

Rev Esp Anestesiol Reanim. 2011 Mar;58(3):191-2. Spanish. No abstract available.

PMID:
21534299
9.

Long survival of a patient with Marshall-Smith syndrome without respiratory complications.

Sperli D, Concolino D, Barbato C, Strisciuglio P, Andria G.

J Med Genet. 1993 Oct;30(10):877-9.

10.

Visual impairment and prolonged survival in a girl with Marshall-Smith syndrome.

Deshpande C, Forrest M, Russell-Eggitt I, Hall CM, Mehta R, Paterson J.

Clin Dysmorphol. 2006 Apr;15(2):111-3.

PMID:
16531739
11.

Septo-optic dysplasia complex: a heterogeneous malformation syndrome.

Polizzi A, Pavone P, Iannetti P, Manfré L, Ruggieri M.

Pediatr Neurol. 2006 Jan;34(1):66-71.

PMID:
16376284
12.

Septo-optic dysplasia and amniotic bands: further evidence for a vascular pathogenesis.

Stevens CA, Dobyns WB.

Am J Med Genet A. 2004 Feb 15;125A(1):12-6. Review.

PMID:
14755460
13.

Marshall-Smith syndrome: further delineation.

Yoder CC, Wiswell T, Cornish JD, Cunningham BE, Crumbaker DH.

South Med J. 1988 Oct;81(10):1297-300. Review.

PMID:
3051433
14.

Surgical correction of severe kyphoscoliosis resulting in a neurological complication in Marshall-Smith syndrome.

Cao K, Watanabe K, Hosogane N, Toyama Y, Matsumoto M.

J Orthop Sci. 2015 Mar;20(2):430-3. doi: 10.1007/s00776-013-0452-8. Epub 2013 Aug 14. No abstract available.

PMID:
23943225
15.

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. doi: 10.1038/pr.2015.135. Epub 2015 Jul 22.

PMID:
26200704
16.

Septo-optic dysplasia with digital anomalies--a recurrent pattern syndrome.

Harrison IM, Brosnahan D, Phelan E, Fitzgerald RJ, Reardon W.

Am J Med Genet A. 2004 Nov 15;131(1):82-5. Review.

PMID:
15368481
17.

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. doi: 10.1002/humu.22603. Epub 2014 Jul 8.

PMID:
24924640
18.

Marshall-Smith syndrome: new radiographic, clinical, and pathologic observations.

Eich GF, Silver MM, Weksberg R, Daneman A, Costa T.

Radiology. 1991 Oct;181(1):183-8.

PMID:
1909446
19.

Anesthesia out of surgical area in a child with Marshall-Smith Syndrome.

Fernández AB, Quesada C, Calvo R.

Minerva Anestesiol. 2011 Jan;77(1):97-8. No abstract available.

20.

A unique lethal spondylocostal metaphyseal dysplasia: a case report.

Goldblatt J, Knowles S.

Clin Dysmorphol. 1998 Apr;7(2):115-8. No abstract available.

PMID:
9571281

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