Format
Items per page
Sort by

Send to:

Choose Destination

Links from PubMed

Items: 1 to 20 of 121

1.

Non-penetrance in tuberous sclerosis.

Webb DW, Osborne JP.

J Med Genet. 1991 Jun;28(6):417-9.

2.

Echocardiography and genetic counselling in tuberous sclerosis.

Webb DW, Thomas RD, Osborne JP.

J Med Genet. 1992 Jul;29(7):487-9.

3.

Tuberous sclerosis: clinical evaluation in a family and implications for genetic counseling.

Elçioğlu N, Karatekin G, Elçioğlu M, Nuhoğlu M, Cenani A.

Genet Couns. 1998;9(2):131-8.

PMID:
9664210
4.

Reduced penetrance in tuberous sclerosis.

Baraitser M, Patton MA.

J Med Genet. 1985 Feb;22(1):29-31.

5.
6.

[Bourneville's tuberous sclerosis and genetic counseling. Study of 36 families].

David A, Briard ML.

J Genet Hum. 1988 Jun;36(3):201-6. French.

PMID:
3411302
7.

Diagnostic criteria: tuberous sclerosis complex. Report of the Diagnostic Criteria Committee of the National Tuberous Sclerosis Association.

Roach ES, Smith M, Huttenlocher P, Bhat M, Alcorn D, Hawley L.

J Child Neurol. 1992 Apr;7(2):221-4. Review. No abstract available.

PMID:
1573244
8.

Variability of expression in tuberous sclerosis.

Northrup H, Wheless JW, Bertin TK, Lewis RA.

J Med Genet. 1993 Jan;30(1):41-3.

9.

Genetic aspects of tuberous sclerosis in the west of Scotland.

Sampson JR, Scahill SJ, Stephenson JB, Mann L, Connor JM.

J Med Genet. 1989 Jan;26(1):28-31.

10.

Diagnostic and counselling difficulties using a fully comprehensive screening protocol for families at risk for tuberous sclerosis.

al-Gazali LI, Arthur RJ, Lamb JT, Hammer HM, Coker TP, Hirschmann PN, Gibbs J, Mueller RF.

J Med Genet. 1989 Nov;26(11):694-703.

11.

The value of investigation for genetic counselling in tuberous sclerosis.

Fryer AE, Chalmers AH, Osborne JP.

J Med Genet. 1990 Apr;27(4):217-23.

12.

Non-penetrance in tuberous sclerosis.

Osborne JP, Jones AC, Burley MW, Jeganathan D, Young J, O'Callaghan FJ, Sampson JR, Povey S.

Lancet. 2000 May 13;355(9216):1698.

PMID:
10905251
13.

Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria.

Roach ES, Gomez MR, Northrup H.

J Child Neurol. 1998 Dec;13(12):624-8. Review.

PMID:
9881533
14.

Ophthalmological signs of tuberous sclerosis.

Leroy BP, Carton D, De Laey JJ.

Bull Soc Belge Ophtalmol. 1996;262:115-21.

PMID:
9339039
15.

Identification of a nonsense mutation at the 5' end of the TSC2 gene in a family with a presumptive diagnosis of tuberous sclerosis complex.

Vrtel R, Verhoef S, Bouman K, Maheshwar MM, Nellist M, van Essen AJ, Bakker PL, Hermans CJ, Bink-Boelkens MT, van Elburg RM, Hoff M, Lindhout D, Sampson J, Halley DJ, van den Ouweland AM.

J Med Genet. 1996 Jan;33(1):47-51.

16.

[Genetic counseling in abortive forms of tuberous sclerosis].

Rott HD, Hornstein OP, Fleischer-Peters A.

MMW Munch Med Wochenschr. 1975 Oct 24;117(43):1721-2. German. No abstract available.

PMID:
810703
17.

Tuberous Sclerosis Consensus Conference: recommendations for diagnostic evaluation. National Tuberous Sclerosis Association.

Roach ES, DiMario FJ, Kandt RS, Northrup H.

J Child Neurol. 1999 Jun;14(6):401-7. Review.

PMID:
10385849
18.

Intrafamilial phenotypic variability in tuberous sclerosis complex.

Lyczkowski DA, Conant KD, Pulsifer MB, Jarrett DY, Grant PE, Kwiatkowski DJ, Thiele EA.

J Child Neurol. 2007 Dec;22(12):1348-55. doi: 10.1177/0883073807307093.

PMID:
18174550
19.

[Tuberous sclerosis: typical complications of a hereditary disease and therapeutic options].

Cohnen M, Weber F, Wagner K, Philipp T.

Med Klin (Munich). 1995 Sep 15;90(9):506-12. German. Erratum in: Med Klin 1995 Nov 15;90(11):652.

PMID:
7476727
20.

The value of CT in genetic counseling in tuberous sclerosis.

Scotti LN, Bartoletti SC, Rosenbaum A, Ackerman MI.

Pediatr Radiol. 1980;9(1):1-4.

PMID:
7352103
Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk