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Items: 1 to 20 of 28

1.

Adult onset pigmentary orthochromatic leukodystrophy with ovarian dysgenesis.

Verghese J, Weidenheim K, Malik S, Rapin I.

Eur J Neurol. 2002 Nov;9(6):663-70.

PMID:
12453083
2.

Cree leukoencephalopathy and CACH/VWM disease are allelic at the EIF2B5 locus.

Fogli A, Wong K, Eymard-Pierre E, Wenger J, Bouffard JP, Goldin E, Black DN, Boespflug-Tanguy O, Schiffmann R.

Ann Neurol. 2002 Oct;52(4):506-10.

PMID:
12325082
3.

Genes and translocations involved in POF.

Schlessinger D, Herrera L, Crisponi L, Mumm S, Percesepe A, Pellegrini M, Pilia G, Forabosco A.

Am J Med Genet. 2002 Aug 15;111(3):328-33. Review.

PMID:
12210333
4.

Identification of novel mutations in FOXL2 associated with premature ovarian failure.

Harris SE, Chand AL, Winship IM, Gersak K, Aittomäki K, Shelling AN.

Mol Hum Reprod. 2002 Aug;8(8):729-33.

5.

"Vanishing white matter" and ovarian dysgenesis in an infant with cerebro-oculo-facio-skeletal phenotype.

Boltshauser E, Barth PG, Troost D, Martin E, Stallmach T.

Neuropediatrics. 2002 Apr;33(2):57-62.

PMID:
12075484
6.

Brain abnormalities, defective meiotic chromosome synapsis and female subfertility in HSF2 null mice.

Kallio M, Chang Y, Manuel M, Alastalo TP, Rallu M, Gitton Y, Pirkkala L, Loones MT, Paslaru L, Larney S, Hiard S, Morange M, Sistonen L, Mezger V.

EMBO J. 2002 Jun 3;21(11):2591-601.

7.

Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter.

van der Knaap MS, Leegwater PA, Könst AA, Visser A, Naidu S, Oudejans CB, Schutgens RB, Pronk JC.

Ann Neurol. 2002 Feb;51(2):264-70.

PMID:
11835386
8.

Estrogens modulate experimentally induced apoptosis of granule cells in the adult hippocampus.

Liu Z, Gastard M, Verina T, Bora S, Mouton PR, Koliatsos VE.

J Comp Neurol. 2001 Dec 3;441(1):1-8.

PMID:
11745631
9.

Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter.

Leegwater PA, Vermeulen G, Könst AA, Naidu S, Mulders J, Visser A, Kersbergen P, Mobach D, Fonds D, van Berkel CG, Lemmers RJ, Frants RR, Oudejans CB, Schutgens RB, Pronk JC, van der Knaap MS.

Nat Genet. 2001 Dec;29(4):383-8.

PMID:
11704758
10.

Myelinopathia centralis diffusa (vanishing white matter disease): evidence of apoptotic oligodendrocyte degeneration in early lesion development.

Brück W, Herms J, Brockmann K, Schulz-Schaeffer W, Hanefeld F.

Ann Neurol. 2001 Oct;50(4):532-6.

PMID:
11601505
11.

Regulation of eukaryotic initiation factor eIF2B.

Proud CG.

Prog Mol Subcell Biol. 2001;26:95-114. Review. No abstract available.

PMID:
11575168
12.

Fatal infantile leukodystrophy: a severe variant of CACH/VWM syndrome, allelic to chromosome 3q27.

Francalanci P, Eymard-Pierre E, Dionisi-Vici C, Boldrini R, Piemonte F, Virgili R, Fariello G, Bosman C, Santorelli FM, Boespflug-Tanguy O, Bertini E.

Neurology. 2001 Jul 24;57(2):265-70.

PMID:
11468311
13.

The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome.

Crisponi L, Deiana M, Loi A, Chiappe F, Uda M, Amati P, Bisceglia L, Zelante L, Nagaraja R, Porcu S, Ristaldi MS, Marzella R, Rocchi M, Nicolino M, Lienhardt-Roussie A, Nivelon A, Verloes A, Schlessinger D, Gasparini P, Bonneau D, Cao A, Pilia G.

Nat Genet. 2001 Feb;27(2):159-66.

PMID:
11175783
14.

Inhibin: a candidate gene for premature ovarian failure.

Shelling AN, Burton KA, Chand AL, van Ee CC, France JT, Farquhar CM, Milsom SR, Love DR, Gersak K, Aittomäki K, Winship IM.

Hum Reprod. 2000 Dec;15(12):2644-9.

15.

Foamy cells with oligodendroglial phenotype in childhood ataxia with diffuse central nervous system hypomyelination syndrome.

Wong K, Armstrong RC, Gyure KA, Morrison AL, Rodriguez D, Matalon R, Johnson AB, Wollmann R, Gilbert E, Le TQ, Bradley CA, Crutchfield K, Schiffmann R.

Acta Neuropathol. 2000 Dec;100(6):635-46.

PMID:
11078215
16.

Follicle dynamics during ovarian ageing.

Faddy MJ.

Mol Cell Endocrinol. 2000 May 25;163(1-2):43-8.

PMID:
10963872
18.

X chromosome defects and premature ovarian failure.

Shelling AN.

Aust N Z J Med. 2000 Feb;30(1):5-7. No abstract available.

PMID:
10800870
19.

Increased density of oligodendrocytes in childhood ataxia with diffuse central hypomyelination (CACH) syndrome: neuropathological and biochemical study of two cases.

Rodriguez D, Gelot A, della Gaspera B, Robain O, Ponsot G, Sarliève LL, Ghandour S, Pompidou A, Dautigny A, Aubourg P, Pham-Dinh D.

Acta Neuropathol. 1999 May;97(5):469-80.

PMID:
10334484
20.

Genes and premature ovarian failure.

Christin-Maitre S, Vasseur C, Portnoï MF, Bouchard P.

Mol Cell Endocrinol. 1998 Oct 25;145(1-2):75-80. Review.

PMID:
9922102
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