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Results: 9

1.
2.

Novel and recurrent EBP mutations in X-linked dominant chondrodysplasia punctata.

Ikegawa S, Ohashi H, Ogata T, Honda A, Tsukahara M, Kubo T, Kimizuka M, Shimode M, Hasegawa T, Nishimura G, Nakamura Y.

Am J Med Genet. 2000 Oct 2;94(4):300-5. Review.

PMID:
11038443
[PubMed - indexed for MEDLINE]
3.

Genetic defects in postsqualene cholesterol biosynthesis.

Moebius FF, Fitzky BU, Glossmann H.

Trends Endocrinol Metab. 2000 Apr;11(3):106-14. Review. Erratum in: Trends Endocrinol Metab 2000 May-Jun;11(4):150.

PMID:
10707051
[PubMed - indexed for MEDLINE]
4.

X-Linked dominant disorders of cholesterol biosynthesis in man and mouse.

Herman GE.

Biochim Biophys Acta. 2000 Dec 15;1529(1-3):357-73. Review.

PMID:
11111102
[PubMed - indexed for MEDLINE]
Free Article
5.

Retinitis pigmentosa: genetic mapping in X-linked and autosomal forms of the disease.

Humphries P, Farrar GJ, Kenna P, McWilliam P.

Clin Genet. 1990 Jul;38(1):1-13. Review.

PMID:
2201466
[PubMed - indexed for MEDLINE]
6.

Chondrodysplasia punctata: a boy with X-linked recessive chondrodysplasia punctata due to an inherited X-Y translocation with a current classification of these disorders.

Wulfsberg EA, Curtis J, Jayne CH.

Am J Med Genet. 1992 Jul 15;43(5):823-8. Review.

PMID:
1642270
[PubMed - indexed for MEDLINE]
7.

X-linked glucose-6-phosphate dehydrogenase (G6PD) and autosomal 6-phosphogluconate dehydrogenase (6PGD) polymorphisms in baboons.

VandeBerg JL, Aivaliotis MJ, Samollow PB.

Biochem Genet. 1992 Dec;30(11-12):567-79. Review.

PMID:
1296572
[PubMed - indexed for MEDLINE]
8.

Clinical, molecular and biochemical characterization of nine Spanish families with Conradi-Hünermann-Happle syndrome: new insights into X-linked dominant chondrodysplasia punctata with a comprehensive review of the literature.

Cañueto J, Girós M, Ciria S, Pi-Castán G, Artigas M, García-Dorado J, García-Patos V, Virós A, Vendrell T, Torrelo A, Hernández-Martín A, Martín-Hernández E, Garcia-Silva MT, Fernández-Burriel M, Rosell J, Tejedor M, Martínez F, Valero J, García JL, Sánchez-Tapia EM, Unamuno P, González-Sarmiento R.

Br J Dermatol. 2012 Apr;166(4):830-8. doi: 10.1111/j.1365-2133.2011.10756.x. Epub 2012 Mar 2. Review.

PMID:
22121851
[PubMed - indexed for MEDLINE]
9.

[Significance of clonality study in hematological diseases].

Karasawa M.

Nihon Naika Gakkai Zasshi. 1995 Nov 10;84(11):1934-8. Review. Japanese. No abstract available.

PMID:
8568398
[PubMed - indexed for MEDLINE]

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