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Items: 1 to 20 of 235

1.

First pregnancy and life after preimplantation genetic diagnosis by polar body analysis for mucopolysaccharidosis type I.

Tomi D, Schultze-Mosgau A, Eckhold J, Schopper B, Al-Hasani S, Steglich C, Gal A, Axt-Fliedner R, Schwinger E, Diedrich K, Griesinger G.

Reprod Biomed Online. 2006 Feb;12(2):215-20.

PMID:
16478590
2.

Preimplantation genetic diagnosis: state of the art.

Basille C, Frydman R, El Aly A, Hesters L, Fanchin R, Tachdjian G, Steffann J, LeLorc'h M, Achour-Frydman N.

Eur J Obstet Gynecol Reprod Biol. 2009 Jul;145(1):9-13. doi: 10.1016/j.ejogrb.2009.04.004. Epub 2009 May 2. Review.

PMID:
19411132
3.

Preimplantation genetic diagnosis of skin fragility-ectodermal dysplasia syndrome.

Fassihi H, Grace J, Lashwood A, Whittock NV, Braude PR, Pickering SJ, McGrath JA.

Br J Dermatol. 2006 Mar;154(3):546-50.

PMID:
16445790
4.

Molecular genetics of mucopolysaccharidosis type I: mutation analysis among the patients of the former Soviet Union.

Voskoboeva EY, Krasnopolskaya XD, Mirenburg TV, Weber B, Hopwood JJ.

Mol Genet Metab. 1998 Oct;65(2):174-80.

PMID:
9787109
5.

Polar body-based preimplantation genetic diagnosis for N-acetylglutamate synthase deficiency.

Altarescu G, Brooks B, Eldar-Geva T, Margalioth EJ, Singer A, Levy-Lahad E, Renbaum P.

Fetal Diagn Ther. 2008;24(3):170-6. doi: 10.1159/000151333. Epub 2008 Aug 28.

PMID:
18753752
6.

alpha-L-iduronidase mutations (Q70X and P533R) associate with a severe Hurler phenotype.

Scott HS, Litjens T, Nelson PV, Brooks DA, Hopwood JJ, Morris CP.

Hum Mutat. 1992;1(4):333-9.

PMID:
1301941
7.

Polar body diagnosis for hemophilia a using multiplex PCR for linked polymorphic markers.

Tomi D, Griesinger G, Schultze-Mosgau A, Eckhold J, Schöpper B, Al-Hasani S, Diedrich K, Schwinger E.

J Histochem Cytochem. 2005 Mar;53(3):277-80.

PMID:
15750001
8.

Successful polar body-based preimplantation genetic diagnosis for achondroplasia.

Altarescu G, Renbaum P, Brooks P B, Margalioth EJ, Ben Chetrit A, Munter G, Levy-Lahad E, Eldar-Geva T.

Reprod Biomed Online. 2008 Feb;16(2):276-82.

PMID:
18284886
9.

Mutation analysis of 19 North American mucopolysaccharidosis type I patients: identification of two additional frequent mutations.

Clarke LA, Nelson PV, Warrington CL, Morris CP, Hopwood JJ, Scott HS.

Hum Mutat. 1994;3(3):275-82.

PMID:
8019563
10.

[Successful preimplantation genetic diagnosis for beta-thalassemia using multiplex nested polymerase chain reaction].

Deng J, Zhuang GL, Peng WL, Zhou CQ, Li J, Liang XY, Deng MF, Zeng YH, Sun HY.

Zhonghua Yi Xue Za Zhi. 2005 Mar 30;85(12):811-5. Chinese.

PMID:
15949396
11.

Preimplantation genetic diagnosis for familial dysautonomia.

Rechitsky S, Verlinsky O, Kuliev A, Ozen RS, Masciangelo C, Lifchez A, Verlinsky Y.

Reprod Biomed Online. 2003 Jun;6(4):488-93.

PMID:
12831599
12.

Preimplantation genetic diagnosis for beta-thalassaemia: the Sardinian experience.

Monni G, Cau G, Usai V, Perra G, Lai R, Ibba G, Faà V, Incani F, Rosatelli MC.

Prenat Diagn. 2004 Dec 15;24(12):949-54.

PMID:
15614915
13.

[Preimplantation genetic diagnosis for beta-thalassemia using whole genome amplification].

Jiao ZX, Zhuang GL, Zhou CQ, Shu YM, Li J, Zhang MF, Deng MF.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2003 Oct;20(5):447-8. Chinese.

PMID:
14556205
14.

Mucopolysaccharidosis type I: identification of common mutations that cause Hurler and Scheie syndromes in Japanese populations.

Yamagishi A, Tomatsu S, Fukuda S, Uchiyama A, Shimozawa N, Suzuki Y, Kondo N, Sukegawa K, Orii T.

Hum Mutat. 1996;7(1):23-9.

PMID:
8664897
15.

Selection of the most common chromosome abnormalities in oocytes prior to ICSI.

Munné S, Sepulveda S, Balmaceda J, Fernandez E, Fabres C, Mackenna A, Lopez T, Crosby JA, Zegers-Hochschild F.

Prenat Diagn. 2000 Jul;20(7):582-6.

PMID:
10913958
16.

Birth of a healthy boy after a double factor PGD in a couple carrying a genetic disease and at risk for aneuploidy: case report.

Obradors A, Fernández E, Oliver-Bonet M, Rius M, de la Fuente A, Wells D, Benet J, Navarro J.

Hum Reprod. 2008 Aug;23(8):1949-56. doi: 10.1093/humrep/den201. Epub 2008 Jun 3.

PMID:
18523000
17.

Preimplantation genetic diagnosis for Niemann-Pick disease type B.

Hellani A, Schuchman EH, Al-Odaib A, Al Aqueel A, Jaroudi K, Ozand P, Coskun S.

Prenat Diagn. 2004 Dec 15;24(12):943-8.

PMID:
15612058
18.

Preventing mucopolysaccharidosis type II (Hunter syndrome): PGD and establishing a Hunter (46, XX) stem cell line.

Altarescu G, Renbaum P, Eldar-Geva T, Brooks B, Varshaver I, Avitzour M, Margalioth EJ, Levy-Lahad E, Elstein D, Epsztejn-Litman S, Eiges R.

Prenat Diagn. 2011 Sep;31(9):853-60. doi: 10.1002/pd.2786. Epub 2011 Jun 27.

PMID:
21706504
19.

Preimplantation diagnosis of single gene disorders by two-step oocyte genetic analysis using first and second polar body.

Verlinsky Y, Rechitsky S, Cieslak J, Ivakhnenko V, Wolf G, Lifchez A, Kaplan B, Moise J, Walle J, White M, Ginsberg N, Strom C, Kuliev A.

Biochem Mol Med. 1997 Dec;62(2):182-7.

PMID:
9441871
20.

[Results from 10 years of preimplantation-genetic diagnostics in The Netherlands].

de Die-Smulders CE, Land JA, Dreesen JC, Coonen E, Evers JL, Geraedts JP.

Ned Tijdschr Geneeskd. 2004 Dec 11;148(50):2491-6. Dutch.

PMID:
15638197

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