Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 228

1.

The X-linked infantile spasms syndrome (MIM 308350) maps to Xp11.4-Xpter in two pedigrees.

Claes S, Devriendt K, Lagae L, Ceulemans B, Dom L, Casaer P, Raeymaekers P, Cassiman JJ, Fryns JP.

Ann Neurol. 1997 Sep;42(3):360-4.

PMID:
9307258
2.

Confirmation of linkage in X-linked infantile spasms (West syndrome) and refinement of the disease locus to Xp21.3-Xp22.1.

Bruyere H, Lewis S, Wood S, MacLeod PJ, Langlois S.

Clin Genet. 1999 Mar;55(3):173-81.

PMID:
10334471
3.

X linked mental retardation and infantile spasms in a family: new clinical data and linkage to Xp11.4-Xp22.11.

Strømme P, Sundet K, Mørk C, Cassiman JJ, Fryns JP, Claes S.

J Med Genet. 1999 May;36(5):374-8.

4.

X-chromosome workshop.

Paterson AD.

Psychiatr Genet. 1998 Summer;8(2):121-6.

PMID:
9686435
5.

Paroxysmal kinesigenic dyskinesia and infantile convulsions: clinical and linkage studies.

Swoboda KJ, Soong B, McKenna C, Brunt ER, Litt M, Bale JF Jr, Ashizawa T, Bennett LB, Bowcock AM, Roach ES, Gerson D, Matsuura T, Heydemann PT, Nespeca MP, Jankovic J, Leppert M, Ptácek LJ.

Neurology. 2000 Jul 25;55(2):224-30.

PMID:
10908896
6.

Benign infantile familial convulsions: natural history of a case and clinical characteristics of a large Italian family.

Giordano L, Accorsi P, Valseriati D, Tiberti A, Menegati E, Zara F, Vignoli A, Vigevano F.

Neuropediatrics. 1999 Apr;30(2):99-101.

PMID:
10401694
7.

Mapping the gene causing X-linked recessive nephrolithiasis to Xp11.22 by linkage studies.

Scheinman SJ, Pook MA, Wooding C, Pang JT, Frymoyer PA, Thakker RV.

J Clin Invest. 1993 Jun;91(6):2351-7.

8.

X-linked myoclonic epilepsy with spasticity and intellectual disability: mutation in the homeobox gene ARX.

Scheffer IE, Wallace RH, Phillips FL, Hewson P, Reardon K, Parasivam G, Stromme P, Berkovic SF, Gecz J, Mulley JC.

Neurology. 2002 Aug 13;59(3):348-56.

PMID:
12177367
9.

A gene for a severe lethal form of X-linked arthrogryposis (X-linked infantile spinal muscular atrophy) maps to human chromosome Xp11.3-q11.2.

Kobayashi H, Baumbach L, Matise TC, Schiavi A, Greenberg F, Hoffman EP.

Hum Mol Genet. 1995 Jul;4(7):1213-6.

PMID:
8528211
10.

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
11.

Genetic heterogeneity in benign familial neonatal convulsions: identification of a new locus on chromosome 8q.

Lewis TB, Leach RJ, Ward K, O'Connell P, Ryan SG.

Am J Hum Genet. 1993 Sep;53(3):670-5.

12.

X-linked mental retardation and infantile spasms in two brothers.

Rugtveit J.

Dev Med Child Neurol. 1986 Aug;28(4):544-6. No abstract available.

PMID:
3758508
13.

A gene for X-linked idiopathic congenital nystagmus (NYS1) maps to chromosome Xp11.4-p11.3.

Cabot A, Rozet JM, Gerber S, Perrault I, Ducroq D, Smahi A, Souied E, Munnich A, Kaplan J.

Am J Hum Genet. 1999 Apr;64(4):1141-6.

14.

Aicardi syndrome in a genotypic male.

Chappelow AV, Reid J, Parikh S, Traboulsi EI.

Ophthalmic Genet. 2008 Dec;29(4):181-3. doi: 10.1080/13816810802320209.

PMID:
19005990
15.

Dent's disease, a renal Fanconi syndrome with nephrocalcinosis and kidney stones, is associated with a microdeletion involving DXS255 and maps to Xp11.22.

Pook MA, Wrong O, Wooding C, Norden AG, Feest TG, Thakker RV.

Hum Mol Genet. 1993 Dec;2(12):2129-34.

PMID:
8111383
16.

Regional localization of two genes for nonspecific X-linked mental retardation to Xp22.3-p22.2 (MRX49) and Xp11.3-p11.21 (MRX50).

Claes S, Vogels A, Holvoet M, Devriendt K, Raeymaekers P, Cassiman JJ, Fryns JP.

Am J Med Genet. 1997 Dec 31;73(4):474-9.

PMID:
9415477
17.

Increasing evidence for a new X-linked mental retardation/epilepsy gene localized to Xp21.3-Xp22.1.

Bruyère H, Lewis ME, Wood S, MacLeod P, Langlois S.

Am J Med Genet. 1999 Oct 8;86(4):401. No abstract available.

PMID:
10494100
18.

X-linked mental retardation with dystonic movements of the hands (PRTS): revisited.

Gedeon A, Partington M, Mulley J.

Am J Med Genet. 1994 Jul 15;51(4):565-8.

PMID:
7943040
19.

Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation.

Kalscheuer VM, Tao J, Donnelly A, Hollway G, Schwinger E, Kübart S, Menzel C, Hoeltzenbein M, Tommerup N, Eyre H, Harbord M, Haan E, Sutherland GR, Ropers HH, Gécz J.

Am J Hum Genet. 2003 Jun;72(6):1401-11. Epub 2003 May 7.

20.

X linked fatal infantile cardiomyopathy maps to Xq28 and is possibly allelic to Barth syndrome.

Gedeon AK, Wilson MJ, Colley AC, Sillence DO, Mulley JC.

J Med Genet. 1995 May;32(5):383-8.

Supplemental Content

Support Center