Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 122

Similar articles for PubMed (Select 21839187)

1.

Congenital hydrocephalus in clinical practice: a genetic diagnostic approach.

Verhagen JM, Schrander-Stumpel CT, Krapels IP, de Die-Smulders CE, van Lint FH, Willekes C, Weber JW, Gavilanes AW, Macville MV, Stegmann AP, Engelen JJ, Bakker J, Vos YJ, Frints SG.

Eur J Med Genet. 2011 Nov-Dec;54(6):e542-7. doi: 10.1016/j.ejmg.2011.06.005. Epub 2011 Jul 30.

PMID:
21839187
2.

Adducted thumbs: a clinical clue to genetic diagnosis.

Verhagen JM, Schrander-Stumpel CT, Blezer MM, Weber JW, Schrander JJ, Rubio-Gozalbo ME, Bakker JA, Stegmann AP, Vos YJ, Frints SG.

Eur J Med Genet. 2013 Mar;56(3):153-8. doi: 10.1016/j.ejmg.2012.11.004. Epub 2012 Dec 7.

PMID:
23220544
3.

A 2.84 Mb deletion at 21q22.11 in a patient clinically diagnosed with Marden-Walker syndrome.

Carrascosa-Romero MC, Suela J, Pardal-Fernández JM, Bermejo-Sánchez E, Vidal-Company A, MacDonald A, Tébar-Gil R, Martínez-Fernández ML, Martínez-Frías ML.

Am J Med Genet A. 2013 Sep;161A(9):2281-90. doi: 10.1002/ajmg.a.35862. Epub 2013 Jul 25.

PMID:
23894067
4.

Molecular mechanisms and neuroimaging criteria for severe L1 syndrome with X-linked hydrocephalus.

Kanemura Y, Okamoto N, Sakamoto H, Shofuda T, Kamiguchi H, Yamasaki M.

J Neurosurg. 2006 Nov;105(5 Suppl):403-12.

PMID:
17328266
5.

Marden-Walker phenotype: a diagnostic dilemma.

Soekarman D, Volcke P, Legius E, Holvoet M, Fryns JP.

Genet Couns. 1996;7(1):31-9.

PMID:
8652086
6.

Novel findings in the Marden-Walker syndrome.

Theys T, Van Geet C, Didgar M.

J Pediatr Surg. 2011 Apr;46(4):e35-7. doi: 10.1016/j.jpedsurg.2011.01.006.

PMID:
21496524
7.
8.

Physical and functional evaluation in Marden-Walker syndrome: case report--review of literature.

dos Santos AN, da Costa CS, de Campos AC, Rocha NA.

Dev Neurorehabil. 2014 Aug;17(4):278-83. doi: 10.3109/17518423.2013.878406. Epub 2014 Mar 20. Review.

PMID:
24649842
9.

Re-assigned diagnosis of D4ST1-deficient Ehlers-Danlos syndrome (adducted thumb-clubfoot syndrome) after initial diagnosis of Marden-Walker syndrome.

Winters KA, Jiang Z, Xu W, Li S, Ammous Z, Jayakar P, Wierenga KJ.

Am J Med Genet A. 2012 Nov;158A(11):2935-40. doi: 10.1002/ajmg.a.35613. Epub 2012 Sep 14.

PMID:
22987394
10.

X-linked hydrocephalus: another two families with an L1 mutation.

Rodríguez Criado G, Pérez Aytés A, Martínez F, Vos YJ, Verlind E, González-Meneses López A, Gómez de Terreros Sánchez I, Schrander-Stumpel C.

Genet Couns. 2003;14(1):57-65.

PMID:
12725590
11.

Marden-Walker phenotype: spectrum of variability in three infants.

Ramer JC, Frankel CA, Ladda RL.

Am J Med Genet. 1993 Feb 1;45(3):285-91. Review.

PMID:
7679543
12.

Expanding the clinical spectrum and allelic heterogeneity in van den Ende-Gupta syndrome.

Patel N, Salih MA, Alshammari MJ, Abdulwahhab F, Adly N, Alzahrani F, Elgamal EA, Elkhashab HY, Al-Qattan M, Alkuraya FS.

Clin Genet. 2014 May;85(5):492-4. doi: 10.1111/cge.12205. Epub 2013 Jun 27. No abstract available.

PMID:
23808541
13.

Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.

McMillin MJ, Beck AE, Chong JX, Shively KM, Buckingham KJ, Gildersleeve HI, Aracena MI, Aylsworth AS, Bitoun P, Carey JC, Clericuzio CL, Crow YJ, Curry CJ, Devriendt K, Everman DB, Fryer A, Gibson K, Giovannucci Uzielli ML, Graham JM Jr, Hall JG, Hecht JT, Heidenreich RA, Hurst JA, Irani S, Krapels IP, Leroy JG, Mowat D, Plant GT, Robertson SP, Schorry EK, Scott RH, Seaver LH, Sherr E, Splitt M, Stewart H, Stumpel C, Temel SG, Weaver DD, Whiteford M, Williams MS, Tabor HK, Smith JD, Shendure J, Nickerson DA; University of Washington Center for Mendelian Genomics, Bamshad MJ.

Am J Hum Genet. 2014 May 1;94(5):734-44. doi: 10.1016/j.ajhg.2014.03.015. Epub 2014 Apr 10.

14.

Novel mutations in the L1CAM gene support the complexity of L1 syndrome.

Bertolin C, Boaretto F, Barbon G, Salviati L, Lapi E, Divizia MT, Garavelli L, Occhi G, Vazza G, Mostacciuolo ML.

J Neurol Sci. 2010 Jul 15;294(1-2):124-6. doi: 10.1016/j.jns.2010.03.030. Epub 2010 May 5.

PMID:
20447653
15.

X linked hydrocephalus and MASA syndrome.

Kenwrick S, Jouet M, Donnai D.

J Med Genet. 1996 Jan;33(1):59-65. Review.

16.

Spectrum and detection rate of L1CAM mutations in isolated and familial cases with clinically suspected L1-disease.

Finckh U, Schröder J, Ressler B, Veske A, Gal A.

Am J Med Genet. 2000 May 1;92(1):40-6.

PMID:
10797421
17.

L1CAM whole gene deletion in a child with L1 syndrome.

Chidsey BA, Baldwin EE, Toydemir R, Ahles L, Hanson H, Stevenson DA.

Am J Med Genet A. 2014 Jun;164A(6):1555-8. doi: 10.1002/ajmg.a.36474. Epub 2014 Mar 25.

PMID:
24668863
18.

Prenatal molecular diagnosis of a severe type of L1 syndrome (X-linked hydrocephalus).

Yamasaki M, Nonaka M, Suzumori N, Nakamura H, Fujita H, Namba A, Kamei Y, Yamada T, Pooh RK, Tanemura M, Sudo N, Nagasaka M, Yoshioka E, Shofuda T, Kanemura Y.

J Neurosurg Pediatr. 2011 Oct;8(4):411-6. doi: 10.3171/2011.7.PEDS10531.

PMID:
21961551
19.

Hirschsprung's disease, acrocallosal syndrome, and congenital hydrocephalus: report of 2 patients and literature review.

Nakakimura S, Sasaki F, Okada T, Arisue A, Cho K, Yoshino M, Kanemura Y, Yamasaki M, Todo S.

J Pediatr Surg. 2008 May;43(5):E13-7. doi: 10.1016/j.jpedsurg.2007.12.069. Review.

PMID:
18485929
20.

Congenital contractural arachnodactyly (Beals-Hecht syndrome): a rare connective tissue disorder.

Jurko A Jr, Krsiakova J, Minarik M, Tonhajzerova I.

Wien Klin Wochenschr. 2013 May;125(9-10):288-90. doi: 10.1007/s00508-013-0358-7. Epub 2013 Apr 18.

PMID:
23595522
Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk