SE Antonarakis: search on Z-Library

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1

De novo duplication of MECP2 in a girl with mental retardation and no obvious dysmorphic features

P Makrythanasis, I Moix, S Gimelli, J Fluss, K Aliferis, SE Antonarakis, MA Morris, F Béna, A Bottani

Journal:

Clinical Genetics

Year:

2010

Language:

english

File:

PDF, 791 KB

english, 2010

2

Pathogenic variants in non-protein-coding sequences

Makrythanasis, P, Antonarakis, SE

Journal:

Clinical Genetics

Year:

2013

Language:

english

File:

PDF, 1.07 MB

english, 2013

3

The entire beta-globin gene cluster is deleted in a form of gamma delta beta-thalassemia

Fearon, ER, Kazazian, HH Jr, Waber, PG, Lee, JI, Antonarakis, SE, Orkin, SH, Vanin, EF, Henthorn, PS, Grosveld, FG, Scott, AF, Buchanan, GR

Journal:

Year:

1983

Language:

english

File:

PDF, 755 KB

english, 1983

4

Fetal hemoglobin synthesis in erythroid cultures in hereditary persistence of fetal hemoglobin and beta o-thalassemia

Weinberg, RS, Antonarakis, SE, Kazazian, HH Jr, Dover, GJ, Orkin, SH, Lenes, AL, Schofield, JM, Alter, BP

Journal:

Year:

1984

File:

PDF, 1.16 MB

1984

5

Production of F cells in sickle cell anemia: regulation by a genetic locus or loci separate from the beta-globin gene cluster

Boyer, SH, Dover, GJ, Serjeant, GR, Smith, KD, Antonarakis, SE, Embury, SH, Margolet, L, Noyes, AN, Boyer, ML, Bias, WB

Journal:

Year:

1984

File:

PDF, 1.10 MB

1984

6

Abnormal processing of beta Knossos RNA

Orkin, SH, Antonarakis, SE, Loukopoulos, D

Journal:

Year:

1984

File:

PDF, 494 KB

1984

7

A new mutation in IVS-1 of the human beta globin gene causing beta thalassemia due to abnormal splicing

Atweh, GF, Wong, C, Reed, R, Antonarakis, SE, Zhu, D, Ghosh, PK, Maniatis, T, Forget, BG, Kazazian, HH Jr

Journal:

Year:

1987

File:

PDF, 875 KB

1987

8

Beta-thalassemia due to two novel nucleotide substitutions in consensus acceptor splice sequences of the beta-globin gene

Wong, C, Antonarakis, SE, Goff, SC, Orkin, SH, Forget, BG, Nathan, DG, Giardina, PJ, Kazazian, HH Jr

Journal:

Year:

1989

File:

PDF, 828 KB

1989

9

Variation in hemoglobin F production among normal and sickle cell adults is not related to nucleotide substitutions in the gamma promoter regions

Economou, EP, Antonarakis, SE, Kazazian, HH Jr, Serjeant, GR, Dover, GJ

Journal:

Year:

1991

File:

PDF, 454 KB

1991

10

Factor VIII gene inversions in severe hemophilia A: results of an international consortium study

Antonarakis, SE, Rossiter, JP, Young, M, Horst, J, de Moerloose, P, Sommer, SS, Ketterling, RP, Kazazian, HH Jr, Negrier, C, Vinciguerra, C

Journal:

Year:

1995

File:

PDF, 1.07 MB

1995