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Results: 11

1.

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
[PubMed - indexed for MEDLINE]
2.

[The MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia and Adducted thumbs), is it heterogeneous?].

Stoll C, Alembik Y, Pfindel M, Chauvin A, Hanauer A.

Arch Fr Pediatr. 1993 Oct;50(8):665-9. Review. French.

PMID:
7516145
[PubMed - indexed for MEDLINE]
3.

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
[PubMed - indexed for MEDLINE]
4.

X linked hydrocephalus and MASA syndrome.

Kenwrick S, Jouet M, Donnai D.

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

PMID:
8825051
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Molecular genetics of familial spastic paraplegia: a multitude of responsible genes.

Kobayashi H, Garcia CA, Alfonso G, Marks HG, Hoffman EP.

J Neurol Sci. 1996 May;137(2):131-8. Review.

PMID:
8782167
[PubMed - indexed for MEDLINE]
6.

Transvaginal sonographic detection of adducted thumbs, hydrocephalus, and agenesis of the corpus callosum at 22 postmenstrual weeks: the masa spectrum or L1 spectrum. A case report and review of the literature.

Timor-Tritsch IE, Monteagudo A, Haratz-Rubinstein N, Levine RU.

Prenat Diagn. 1996 Jun;16(6):543-8. Review.

PMID:
8809896
[PubMed - indexed for MEDLINE]
7.

X-linked recessive inheritance of radial ray deficiencies in a family with four affected males.

Galjaard RJ, Kostakoglu N, Hoogeboom JJ, Breedveld GJ, van der Linde HC, Hovius SE, Oostra BA, Sandkuijl LA, Akarsu AN, Heutink P.

Eur J Hum Genet. 2001 Sep;9(9):653-8. Review.

PMID:
11571552
[PubMed - indexed for MEDLINE]
Free Article
8.

Manifestations in four males with and an obligate carrier of the Lenz microphthalmia syndrome.

Forrester S, Kovach MJ, Reynolds NM, Urban R, Kimonis V.

Am J Med Genet. 2001 Jan 1;98(1):92-100. Review.

PMID:
11426460
[PubMed - indexed for MEDLINE]
9.

The genetics of autism.

Muhle R, Trentacoste SV, Rapin I.

Pediatrics. 2004 May;113(5):e472-86. Review.

PMID:
15121991
[PubMed - indexed for MEDLINE]
10.

X-linked mental retardation, microcephaly, and growth delay associated with hereditary bullous dystrophy macular type: report of a second family.

Lungarotti MS, Martello C, Barboni G, Mezzetti D, Mariotti G, Calabro A.

Am J Med Genet. 1994 Jul 15;51(4):598-601. Review.

PMID:
7943046
[PubMed - indexed for MEDLINE]
11.

Non-specific X linked mental retardation.

Kerr B, Turner G, Mulley J, Gedeon A, Partington M.

J Med Genet. 1991 Jun;28(6):378-82. Review.

PMID:
1870094
[PubMed - indexed for MEDLINE]
Free PMC Article

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