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Items: 1 to 20 of 25

1.
2.

X-linked myotubular myopathy: refinement of the critical gene region.

Smolenicka Z, Laporte J, Hu L, Dahl N, Fitzpatrick J, Kress W, Liechti-Gallati S.

Neuromuscul Disord. 1996 Aug;6(4):275-81. Review.

PMID:
8887957
3.

MTM1 mutations in X-linked myotubular myopathy.

Laporte J, Biancalana V, Tanner SM, Kress W, Schneider V, Wallgren-Pettersson C, Herger F, Buj-Bello A, Blondeau F, Liechti-Gallati S, Mandel JL.

Hum Mutat. 2000;15(5):393-409. Review.

PMID:
10790201
4.

[Myotubular myopathy].

Guiraud-Chaumeil C, Laporte J, Mandel JL, Warter JM.

Rev Neurol (Paris). 2000 Nov;156(11):960-4. Review. French.

PMID:
11119047
5.

[X-linked recessive myotubular myopathy with a splice-site mutation in the myotubularin gene].

Watanabe T, Watanabe M, Saito T, Higashitani A, Tanaka S, Nishino I, Nonaka I.

No To Hattatsu. 1998 Nov;30(6):523-7. Review. Japanese.

PMID:
9844418
6.

[Molecular diagnosis of primary immunodeficiencies].

García Rodríguez MC, López Granados E, Cambronero Martínez R, Ferreira Cerdán A, Fontán Casariego G.

Allergol Immunopathol (Madr). 2001 May-Jun;29(3):107-13. Review. Spanish.

PMID:
11434883
7.

X-linked myotubular and centronuclear myopathies.

Pierson CR, Tomczak K, Agrawal P, Moghadaszadeh B, Beggs AH.

J Neuropathol Exp Neurol. 2005 Jul;64(7):555-64. Review.

PMID:
16042307
8.

[Myotubular myopathy. Case report and review of the literature].

Kovács SK, Korcsik J, Szabó H, Bódi I, Katona M, Bereg E, Endreffy E, Túri S, Hortobágyi T, Sztriha L.

Orv Hetil. 2007 Sep 16;148(37):1757-62. Review. Hungarian.

PMID:
17827085
9.

Centronuclear (myotubular) myopathy.

Jungbluth H, Wallgren-Pettersson C, Laporte J.

Orphanet J Rare Dis. 2008 Sep 25;3:26. doi: 10.1186/1750-1172-3-26. Review.

10.

The molecular genetic basis and diagnosis of familial hypercholesterolemia in Denmark.

Jensen HK.

Dan Med Bull. 2002 Nov;49(4):318-45. Review.

PMID:
12553167
11.

The myotubular myopathies: differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies.

Wallgren-Pettersson C, Clarke A, Samson F, Fardeau M, Dubowitz V, Moser H, Grimm T, Barohn RJ, Barth PG.

J Med Genet. 1995 Sep;32(9):673-9. Review.

12.

[Prenatal diagnosis of cutaneous genetic diseases by the study of fetal DNA].

Hovnanian A, De Prost Y.

Ann Dermatol Venereol. 1995;122(4):173-85. Review. French.

PMID:
8526412
13.

[Cousins with X-linked recessive myotubular myopathy].

Mori Y, Kaneko S, Nakayama T, Date M, Nakamoto N, Kobayashi M, Sugiura M, Hashira S, Abe T, Hirokawa H, Nonaka I.

No To Hattatsu. 1997 Jul;29(4):310-4. Review. Japanese.

PMID:
9248291
14.
15.

Molecular diagnosis of genetic disease.

Maddalena A, Bick DP, Schulman JD.

J Reprod Med. 1992 May;37(5):437-44. Review.

PMID:
1507192
16.

Familial diaphragmatic defects: early prenatal diagnosis and evidence for major gene inheritance.

Bocian M, Spence MA, Marazita ML, Walker AP, Weissberg DL.

Am J Med Genet Suppl. 1986;2:163-76. Review.

PMID:
3146286
17.

DNA diagnosis for the practicing obstetrician.

Gupta GK, Bianchi DW.

Obstet Gynecol Clin North Am. 1997 Mar;24(1):123-42. Review.

PMID:
9086522
18.

What are the present possibilities for the prenatal diagnosis of primary hyperoxaluria?

Danpure CJ.

Pediatr Nephrol. 1996 Apr;10(2):190. Review. No abstract available.

PMID:
8703709
19.

Case report of intrafamilial variability in autosomal recessive centronuclear myopathy associated to a novel BIN1 stop mutation.

Böhm J, Yiş U, Ortaç R, Cakmakçı H, Kurul SH, Dirik E, Laporte J.

Orphanet J Rare Dis. 2010 Dec 3;5:35. doi: 10.1186/1750-1172-5-35. Review.

20.

DNA diagnosis in monogenic diseases.

Alford RL, Rossiter BJ, Caskey CT.

Int J Technol Assess Health Care. 1994 Fall;10(4):628-43. Review.

PMID:
7843883

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