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Items: 1 to 20 of 333

1.

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
2.

Real-time reverse linkage using polar body analysis for preimplantation genetic diagnosis in female carriers of de novo mutations.

Altarescu G, Eldar-Geva T, Varshower I, Brooks B, Haran EZ, Margalioth EJ, Levy-Lahad E, Renbaum P.

Hum Reprod. 2009 Dec;24(12):3225-9. doi: 10.1093/humrep/dep293. Epub 2009 Aug 17.

3.

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
4.

A versatile strategy for preimplantation genetic diagnosis of haemophilia A based on F8-gene sequencing.

Sánchez-García JF, Gallardo D, Navarro J, Márquez C, Gris JM, Sánchez MA, Altisent C, Vidal F.

Thromb Haemost. 2006 Dec;96(6):839-45.

PMID:
17139381
5.

Advantages of multiple markers and polar body analysis in preimplantation genetic diagnosis for Alagille disease.

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

Prenat Diagn. 2007 Apr;27(4):317-21.

PMID:
17286312
6.

Simultaneous preimplantation genetic diagnosis for Tay-Sachs and Gaucher disease.

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

Reprod Biomed Online. 2007 Jul;15(1):83-8.

PMID:
17623543
7.

Two pregnancies after preimplantation genetic diagnosis for osteogenesis imperfecta type I and type IV.

De Vos A, Sermon K, Van de Velde H, Joris H, Vandervorst M, Lissens W, De Paepe A, Liebaers I, Van Steirteghem A.

Hum Genet. 2000 Jun;106(6):605-13.

PMID:
10942108
8.

PGD on a recombinant allele: crossover between the TSC2 gene and 'linked' markers impairs accurate diagnosis.

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

Prenat Diagn. 2008 Oct;28(10):929-33. doi: 10.1002/pd.2070.

PMID:
18792920
9.

[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
10.

Single-sperm analysis for haplotype construction of de-novo paternal mutations: application to PGD for neurofibromatosis type 1.

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

Hum Reprod. 2006 Aug;21(8):2047-51. Epub 2006 May 31.

11.

First specific preimplantation genetic diagnosis for ornithine transcarbamylase deficiency.

Ray PF, Gigarel N, Bonnefont JP, Attié T, Hamamah S, Frydman N, Vekemans M, Frydman R, Munnich A.

Prenat Diagn. 2000 Dec;20(13):1048-54.

PMID:
11180228
12.

Polar body-based preimplantation diagnosis for X-linked disorders.

Verlinsky Y, Rechitsky S, Verlinsky O, Kenigsberg D, Moshella J, Ivakhnenko V, Masciangelo C, Strom C, Kuliev A.

Reprod Biomed Online. 2002 Jan-Feb;4(1):38-42.

PMID:
12470351
13.

Pregnancy after preimplantation genetic diagnosis for Charcot-Marie-Tooth disease type 1A.

De Vos A, Sermon K, Van de Velde H, Joris H, Vandervorst M, Lissens W, Mortier G, De Sutter P, Löfgren A, Van Broeckhoven C, Liebaers I, Van Steirteghem A.

Mol Hum Reprod. 1998 Oct;4(10):978-84.

14.

Preimplantation genetic diagnosis (PGD) for nonsyndromic deafness by polar body and blastomere biopsy.

Altarescu G, Eldar-Geva T, Brooks B, Zylber-Haran E, Varshaver I, Margalioth EJ, Levy-Lahad E, Renbaum P.

J Assist Reprod Genet. 2009 Jul;26(7):391-7. doi: 10.1007/s10815-009-9335-5.

15.

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
16.

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
17.

Strategies and clinical outcome of 250 cycles of Preimplantation Genetic Diagnosis for single gene disorders.

Fiorentino F, Biricik A, Nuccitelli A, De Palma R, Kahraman S, Iacobelli M, Trengia V, Caserta D, Bonu MA, Borini A, Baldi M.

Hum Reprod. 2006 Mar;21(3):670-84. Epub 2005 Nov 25.

18.

Multiplex nested PCR for preimplantation genetic diagnosis of spinal muscular atrophy.

Malcov M, Schwartz T, Mei-Raz N, Yosef DB, Amit A, Lessing JB, Shomrat R, Orr-Urtreger A, Yaron Y.

Fetal Diagn Ther. 2004 Mar-Apr;19(2):199-206.

PMID:
14764971
19.

PGD for autosomal dominant polycystic kidney disease type 1.

De Rycke M, Georgiou I, Sermon K, Lissens W, Henderix P, Joris H, Platteau P, Van Steirteghem A, Liebaers I.

Mol Hum Reprod. 2005 Jan;11(1):65-71. Epub 2004 Dec 10.

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