S
Stylianos E. Antonarakis
Researcher at University of Geneva
Publications - 758
Citations - 99393
Stylianos E. Antonarakis is an academic researcher from University of Geneva. The author has contributed to research in topics: Gene & Chromosome 21. The author has an hindex of 138, co-authored 746 publications receiving 93605 citations. Previous affiliations of Stylianos E. Antonarakis include Northwestern University & Gujarat University.
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Journal ArticleDOI
Cytogenetic and molecular analysis of a ring (21) in a patient with partial trisomy 21 and megakaryocytic leukemia.
Catherine G. Palmer,Catherine G. Palmer,J. L. Blouin,J. L. Blouin,Marilyn J. Bull,Marilyn J. Bull,Philip P. Breitfeld,Philip P. Breitfeld,Gail H. Vance,Gail H. Vance,T. D. Van Meter,T. D. Van Meter,David D. Weaver,David D. Weaver,Nyla A. Heerema,Nyla A. Heerema,S. G. Colbern,S. G. Colbern,Julie R. Korenberg,Julie R. Korenberg,Stylianos E. Antonarakis,Stylianos E. Antonarakis,X. Chen,X. Chen +23 more
TL;DR: In situ hybridization studies, gene dosage, and DNA polymorphism analysis showed that the ring chromosome carries a duplicated region which extends from D21S406 on the centromeric side and includes marker D 21S3 on the telomeric side.
Journal ArticleDOI
Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features
Muhammad Ansar,Farid Ullah,Farid Ullah,Farid Ullah,Sohail A. Paracha,Darius J. Adams,Abbe Lai,Abbe Lai,Abbe Lai,Lynn Pais,Lynn Pais,Justyna Iwaszkiewicz,Francisca Millan,Muhammad T. Sarwar,Zehra Agha,Sayyed Fahim Shah,Azhar Ali Qaisar,Emilie Falconnet,Vincent Zoete,Vincent Zoete,Emmanuelle Ranza,Periklis Makrythanasis,Periklis Makrythanasis,Federico Santoni,Federico Santoni,Jawad Ahmed,Nicholas Katsanis,Christopher A. Walsh,Erica E. Davis,Stylianos E. Antonarakis +29 more
TL;DR: The genetic and functional data indicate that DYNC1I2 dysfunction probably causes an autosomal-recessive microcephaly syndrome and highlight further the critical roles of the dynein-1 complex in neurodevelopment.
Journal ArticleDOI
Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3.
Muhammad Ansar,Hyunglok Chung,Hyunglok Chung,Yar M. Waryah,Periklis Makrythanasis,Emilie Falconnet,Ali Raza Rao,Michel Guipponi,Ashok Kumar Narsani,Ralph Fingerhut,Federico Santoni,Emmanuelle Ranza,Ali Muhammad Waryah,Hugo J. Bellen,Hugo J. Bellen,Hugo J. Bellen,Stylianos E. Antonarakis +16 more
TL;DR: It is concluded that the identified mutation in MARK3 establishes a new gene-disease link, since it likely causes structural abnormalities during eye development and visual impairment in humans, and that the function of MARK3/par-1 is evolutionarily conserved in eye development.
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Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature.
Muhammad Ansar,Sohail A. Paracha,Alessandro Serretti,Muhammad T. Sarwar,Jamshed Khan,Emmanuelle Ranza,Emilie Falconnet,Justyna Iwaszkiewicz,Sayyed Fahim Shah,Azhar Ali Qaisar,Federico Santoni,Federico Santoni,Vincent Zoete,Vincent Zoete,André Mégarbané,Jawad Ahmed,Roberto Colombo,Periklis Makrythanasis,Periklis Makrythanasis,Stylianos E. Antonarakis +19 more
TL;DR: The phenotypic similarity and the segregation analysis suggest that FBXL3 biallelic, LoF variants link this gene with syndromic autosomal recessive developmental delay/intellectual disability.
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Mild hemophilia A resulting from Arg-to-Leu substitution in exon 26 of the factor VIII gene.
TL;DR: Polymerase chain reaction amplification and nucleotide sequencing were used to identify the molecular defect in a Japanese patient with mild hemophilia A and an alteration of a TaqI site in exon 26 of the factor VIII gene.