Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 98

1.

Pregnancy after preimplantation genetic diagnosis for brachydactyly type B.

Hellani A, Abu-Amero K, Azouri J, Al-Sharif H, Barblet H, El-Akoum S.

Reprod Biomed Online. 2009 Jan;18(1):127-31.

PMID:
19146779
2.

Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B.

Schwabe GC, Tinschert S, Buschow C, Meinecke P, Wolff G, Gillessen-Kaesbach G, Oldridge M, Wilkie AO, Kömec R, Mundlos S.

Am J Hum Genet. 2000 Oct;67(4):822-31. Epub 2000 Sep 12.

3.

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
4.

Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome.

van Bokhoven H, Celli J, Kayserili H, van Beusekom E, Balci S, Brussel W, Skovby F, Kerr B, Percin EF, Akarsu N, Brunner HG.

Nat Genet. 2000 Aug;25(4):423-6.

PMID:
10932187
5.

Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B.

Oldridge M, Fortuna AM, Maringa M, Propping P, Mansour S, Pollitt C, DeChiara TM, Kimble RB, Valenzuela DM, Yancopoulos GD, Wilkie AO.

Nat Genet. 2000 Mar;24(3):275-8.

PMID:
10700182
6.

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
7.

[Identification of a recurrent mutation in the ROR2 gene in a Chinese family with brachydactyly type B].

Yang W, Tan FQ, Sun M, Zeng X, Liu J, Liu GY, Luo HY, Zhang X.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2004 Feb;21(1):61-3. Chinese.

PMID:
14767912
8.

Case report: first successful application of preimplantation genetic diagnosis for hereditary angiooedema.

Bautista-Llácer R, Alberola TM, Vendrell X, Fernández E, Pérez-Alonso M.

Reprod Biomed Online. 2010 Nov;21(5):658-62. doi: 10.1016/j.rbmo.2010.05.016. Epub 2010 Jun 16.

PMID:
20888297
9.

Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2.

Afzal AR, Rajab A, Fenske CD, Oldridge M, Elanko N, Ternes-Pereira E, Tüysüz B, Murday VA, Patton MA, Wilkie AO, Jeffery S.

Nat Genet. 2000 Aug;25(4):419-22.

PMID:
10932186
10.
11.

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.

PMID:
9809680
13.

A nonsense mutation in the gene ROR2 underlying autosomal dominant brachydactyly type B.

Habib R, Amin-ud-din M, Ahmad W.

Clin Dysmorphol. 2013 Apr;22(2):47-50. doi: 10.1097/MCD.0b013e32835c6c8c.

PMID:
23238279
14.

Preimplantation genetic diagnosis of Morquio disease.

Qubbaj W, Al-Aqeel AI, Al-Hassnan Z, Al-Duraihim A, Awartani K, Al-Rejjal R, Coskun S.

Prenat Diagn. 2008 Oct;28(10):900-3. doi: 10.1002/pd.2081.

PMID:
18792995
15.

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
16.

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
17.

Development and validation of concurrent preimplantation genetic diagnosis for single gene disorders and comprehensive chromosomal aneuploidy screening without whole genome amplification.

Zimmerman RS, Jalas C, Tao X, Fedick AM, Kim JG, Pepe RJ, Northrop LE, Scott RT Jr, Treff NR.

Fertil Steril. 2016 Feb;105(2):286-94. doi: 10.1016/j.fertnstert.2015.10.003. Epub 2015 Oct 23.

PMID:
26602983
18.

Live births after simultaneous avoidance of monogenic diseases and chromosome abnormality by next-generation sequencing with linkage analyses.

Yan L, Huang L, Xu L, Huang J, Ma F, Zhu X, Tang Y, Liu M, Lian Y, Liu P, Li R, Lu S, Tang F, Qiao J, Xie XS.

Proc Natl Acad Sci U S A. 2015 Dec 29;112(52):15964-9. doi: 10.1073/pnas.1523297113. Epub 2015 Dec 28.

19.

[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
20.

Preimplantation genetic diagnosis for Duchenne muscular dystrophy by multiple displacement amplification.

Ren Z, Zeng HT, Xu YW, Zhuang GL, Deng J, Zhang C, Zhou CQ.

Fertil Steril. 2009 Feb;91(2):359-64. doi: 10.1016/j.fertnstert.2007.11.044. Epub 2008 Mar 21.

PMID:
18359022

Supplemental Content

Support Center