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Results: 1 to 20 of 259

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
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
5.

First unaffected pregnancy using preimplantation genetic diagnosis for sickle cell anemia.

Xu K, Shi ZM, Veeck LL, Hughes MR, Rosenwaks Z.

JAMA. 1999 May 12;281(18):1701-6.

PMID:
10328069
[PubMed - indexed for MEDLINE]
6.

[Mutation analysis and prenatal diagnosis of 2 cases with mucopolysaccharidosis type I].

Wang XN, Wei M, Shi HP, Qiu ZQ, Yao FX, Meng Y, Zhang WM.

Zhonghua Er Ke Za Zhi. 2011 Apr;49(4):306-10. Chinese.

PMID:
21624210
[PubMed - indexed for MEDLINE]
7.

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
[PubMed - indexed for MEDLINE]
8.

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
[PubMed - indexed for MEDLINE]
9.

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
[PubMed - indexed for MEDLINE]
10.

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
[PubMed - indexed for MEDLINE]
11.

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
[PubMed - indexed for MEDLINE]
12.

[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
[PubMed - indexed for MEDLINE]
13.

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
[PubMed - indexed for MEDLINE]
14.

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
[PubMed - indexed for MEDLINE]
15.

[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
[PubMed - indexed for MEDLINE]
16.

Strategies for prenatal and preimplantation genetic diagnosis in Marfan syndrome (MFS).

Loeys B, Nuytinck L, Van Acker P, Walraedt S, Bonduelle M, Sermon K, Hamel B, Sanchez A, Messiaen L, De Paepe A.

Prenat Diagn. 2002 Jan;22(1):22-8.

PMID:
11810645
[PubMed - indexed for MEDLINE]
17.

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
[PubMed - indexed for MEDLINE]
18.

Mucopolysaccharidosis I: Alpha-L-Iduronidase mutations in three Tunisian families.

Laradi S, Tukel T, Erazo M, Shabbeer J, Chkioua L, Khedhiri S, Ferchichi S, Chaabouni M, Miled A, Desnick RJ.

J Inherit Metab Dis. 2005;28(6):1019-26.

PMID:
16435195
[PubMed - indexed for MEDLINE]
19.

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
[PubMed - indexed for MEDLINE]
20.

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
[PubMed - indexed for MEDLINE]
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