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Items: 1 to 20 of 161

1.

X-linked hydrocephalus: clinical heterogeneity at a single gene locus.

Serville F, Lyonnet S, Pelet A, Reynaud M, Louail C, Munnich A, Le Merrer M.

Eur J Pediatr. 1992 Jul;151(7):515-8.

PMID:
1396913
2.

Agenesis of the corpus callosum associated with MASA syndrome.

Boyd E, Schwartz CE, Schroer RJ, May MM, Shapiro SD, Arena JF, Lubs HA, Stevenson RE.

Clin Dysmorphol. 1993 Oct;2(4):332-41.

PMID:
8305964
3.

Prenatal exclusion of X-linked hydrocephalus-stenosis of the aqueduct of Sylvius sequence using closely linked DNA markers.

Serville F, Benit P, Saugier P, Vibert M, Royer G, Pelet A, Chery M, Munnich A, Lyonnet S.

Prenat Diagn. 1993 Jun;13(6):435-9.

PMID:
8372068
4.

CRASH syndrome: clinical spectrum of corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraparesis and hydrocephalus due to mutations in one single gene, L1.

Fransen E, Lemmon V, Van Camp G, Vits L, Coucke P, Willems PJ.

Eur J Hum Genet. 1995;3(5):273-84. Review. Erratum in: Eur J Hum Genet 1996;4(2):126.

PMID:
8556302
5.

MASA syndrome: new clinical features and linkage analysis using DNA probes.

Schrander-Stumpel C, Legius E, Fryns JP, Cassiman JJ.

J Med Genet. 1990 Nov;27(11):688-92.

6.

Spectrum of X-linked hydrocephalus (HSAS), MASA syndrome, and complicated spastic paraplegia (SPG1): Clinical review with six additional families.

Schrander-Stumpel C, Höweler C, Jones M, Sommer A, Stevens C, Tinschert S, Israel J, Fryns JP.

Am J Med Genet. 1995 May 22;57(1):107-16.

PMID:
7645588
7.

Fine mapping of X-linked clasped thumb and mental retardation (MASA syndrome) in Xq28.

Legius E, Kaepernick L, Higgins JV, Glover TW.

Clin Genet. 1994 Apr;45(4):165-8.

8.

Linkage of nonspecific X-linked mental retardation to Xq21.31.

Jedele KB, Michels VV, Schaid DJ, Schowalter KV, Thibodeau SN.

Am J Med Genet. 1992 Apr 15-May 1;43(1-2):436-42.

PMID:
1605223
9.

Linkage analysis suggests at least two loci for X-linked non-specific mental retardation.

Arveiler B, Alembik Y, Hanauer A, Jacobs P, Tranebjaerg L, Mikkelsen M, Puissant H, Piet LL, Mandel JL.

Am J Med Genet. 1988 May-Jun;30(1-2):473-83.

PMID:
3177465
10.

Prenatal diagnosis of hydrocephalus-stenosis of the aqueduct of Sylvius by ultrasound in the first trimester of pregnancy. Report of two cases.

Senat MV, Bernard JP, Delezoide A, Saugier-Veber P, Hillion Y, Roume J, Ville Y.

Prenat Diagn. 2001 Dec;21(13):1129-32.

PMID:
11787037
11.

Further evidence for a fourth gene causing X-linked pure spastic paraplegia.

Starling A, Rocco P, Cambi F, Hobson GM, Passos Bueno MR, Zatz M.

Am J Med Genet. 2002 Aug 1;111(2):152-6.

PMID:
12210342
12.

Refining the genetic location of the gene for X linked hydrocephalus within Xq28.

Jouet M, Feldman E, Yates J, Donnai D, Paterson J, Siggers D, Kenwrick S.

J Med Genet. 1993 Mar;30(3):214-7.

13.

Localisation of a gene for non-specific X linked mental retardation (MRX46) to Xq25-q26.

Yntema HG, Hamel BC, Smits AP, van Roosmalen T, van den Helm B, Kremer H, Ropers HH, Smeets DF, van Bokhoven H.

J Med Genet. 1998 Oct;35(10):801-5.

14.

MASA syndrome: further clinical delineation and chromosomal localisation.

Winter RM, Davies KE, Bell MV, Huson SM, Patterson MN.

Hum Genet. 1989 Jul;82(4):367-70.

PMID:
2737668
15.

A non-syndromal form of X-linked mental retardation (XLMR) is linked to DXS14.

Suthers GK, Turner G, Mulley JC.

Am J Med Genet. 1988 May-Jun;30(1-2):485-91.

PMID:
3177466
16.

Gene for nonspecific X-linked mental retardation (MRX 47) is located in Xq22.3-q24.

des Portes V, Soufir N, Carrié A, Billuart P, Bienvenu T, Vinet MC, Beldjord C, Ponsot G, Kahn A, Boué J, Chelly J.

Am J Med Genet. 1997 Oct 31;72(3):324-8.

PMID:
9332663
17.

X-linked spastic paraplegia: evidence for homogeneity with a variable phenotype.

Goldblatt J, Ballo R, Sachs B, Moosa A.

Clin Genet. 1989 Feb;35(2):116-20.

PMID:
2470540
18.

Regional localization of an X-linked mental retardation gene to Xp21.1-Xp22.13 (MRX38).

Schutz CK, Ives EJ, Chalifoux M, MacLaren L, Farrell S, Robinson PD, White BN, Holden JJ.

Am J Med Genet. 1996 Jul 12;64(1):89-96.

PMID:
8826457
20.

Genetic heterogeneity of syndromic X-linked recessive microphthalmia-anophthalmia: is Lenz microphthalmia a single disorder?

Ng D, Hadley DW, Tifft CJ, Biesecker LG.

Am J Med Genet. 2002 Jul 15;110(4):308-14.

PMID:
12116202

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