About: Stylianos E. Antonarakis

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An Entity of Type : foaf:Person, within Data Space : data.idref.fr associated with source document(s)

Attributes	Values
type	Person
sameAs	Antonarakis, Stylianos E. Antonarakis, Stylianos E. Antonarakis, Stylianos E. Antonarakis, Stylianos E. Antonarakis, Stylianos E.
bnf-onto:FRBNF	12424342(xsd:integer)
preferred label	Antonarakis, Stylianos E.
name	Stylianos E. Antonarakis
Language	http://lexvo.org/id/iso639-3/eng
isni:identifierValid	0000000116517969
Given name	Stylianos E.
familyName	Antonarakis
note	Pédiatre. En poste à la Johns Hopkins university school of medicine, USA (en 1990)
ORCID iD	0000-0001-8907-5823
is sameAs of	Antonarakis, Stylianos E. Antonarakis, Stylianos E. Antonarakis, Stylianos E. Antonarakis, Stylianos E. Antonarakis, Stylianos E.
is Author of	http://www.sudoc.fr/015897044/id Mendelian inheritance in man, catalogs of autosomal dominant, autosomal recessive, and X-linked phenotypes http://www.sudoc.fr/015897001/id The cerebellar transcriptome during postnatal development of the Ts1Cje mouse, a segmental trisomy model for Down syndrome Assessment of transcript reconstruction methods for RNA-seq. Tmprss3, a Transmembrane Serine Protease Deficient in Human DFNB8/10 Deafness, Is Critical for Cochlear Hair Cell Survival at the Onset of Hearing Loss of function mutation in the palmitoyl-transferase HHAT leads to syndromic 46,XY disorder of sex development by impeding Hedgehog protein palmitoylation and signaling Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations The same “TATA” box β-thalassemia mutation in Chinese and US blacks: another example of independent origins of mutation Highly polymorphic repeat marker within the β-amyloid precursor protein gene YAC and cosmid FISH mapping of an unbalanced chromosomal translocation causing partial trisomy 21 and Down syndrome Characterization of cDNA clones containing CCA trinucleotide repeats derived from human brain D21S210: A highly polymorphic (GT)n marker closely linked to the β-amyloid protein precursor (APP) gene Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion DNA polymorphism and molecular pathology of the human globin gene clusters Mild hemophilia A resulting from Arg-to-Leu substitution in exon 26 of the factor VIII gene X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3 https://serval.unil.ch/notice/serval:BIB_37B778BC3458#id https://serval.unil.ch/notice/serval:BIB_D7BE05010980#id https://archive-ouverte.unige.ch/unige:34666#id https://archive-ouverte.unige.ch/unige:8674#id https://archive-ouverte.unige.ch/unige:8917#id https://archive-ouverte.unige.ch/unige:8962#id https://archive-ouverte.unige.ch/unige:154959#id https://archive-ouverte.unige.ch/unige:77363#id https://archive-ouverte.unige.ch/unige:8625#id https://archive-ouverte.unige.ch/unige:8713#id https://archive-ouverte.unige.ch/unige:8821#id https://archive-ouverte.unige.ch/unige:8856#id https://archive-ouverte.unige.ch/unige:8871#id https://archive-ouverte.unige.ch/unige:88981#id https://archive-ouverte.unige.ch/unige:9043#id https://archive-ouverte.unige.ch/unige:34640#id https://archive-ouverte.unige.ch/unige:77371#id https://archive-ouverte.unige.ch/unige:8686#id https://archive-ouverte.unige.ch/unige:8832#id Apolipoprotein A1 Baltimore (Arg10→Leu), a new ApoA1 variant Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition BgIII polymorphic site downstream to the human apolipoprotein AIV (apoAIV) gene Germ-Line chromosomal localization of genes in chromosome 11p linkage: Parathyroid hormone, β-globin, c-Ha-ras-1, and insulin DNA polymorphism and molecular pathology of the human globin gene clusters https://serval.unil.ch/notice/serval:BIB_1573FA50DE7C#id https://serval.unil.ch/notice/serval:BIB_659B70655923#id https://serval.unil.ch/notice/serval:BIB_732D90A06060#id https://serval.unil.ch/notice/serval:BIB_2020490DD5CB#id https://archive-ouverte.unige.ch/unige:8679#id https://archive-ouverte.unige.ch/unige:9177#id https://archive-ouverte.unige.ch/unige:42272#id https://archive-ouverte.unige.ch/unige:84469#id https://archive-ouverte.unige.ch/unige:8611#id https://archive-ouverte.unige.ch/unige:8642#id https://archive-ouverte.unige.ch/unige:8673#id https://archive-ouverte.unige.ch/unige:8731#id https://archive-ouverte.unige.ch/unige:8774#id https://archive-ouverte.unige.ch/unige:8920#id https://archive-ouverte.unige.ch/unige:9146#id https://archive-ouverte.unige.ch/unige:9171#id https://archive-ouverte.unige.ch/unige:9205#id https://archive-ouverte.unige.ch/unige:8890#id The Haemophilia A Mutation Search Test and Resource Site, Home Page of the Factor VIII Mutation Database: HAMSTeRS Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition The tetranucleotide repeat polymorphism D21S1245 demonstrates hypermutability in germline and somatic cells PvuII polymorphic site upstream to the human ApoCIII gene Familial isolated aniridia associated with a translocation involving chromosomes 11 and 22 [t(11;22)(p13;q12.2)] https://serval.unil.ch/notice/serval:BIB_18732BEDBC91#id https://serval.unil.ch/notice/serval:BIB_5A57B966BF00#id https://serval.unil.ch/notice/serval:BIB_A8AACEE8CD42#id https://serval.unil.ch/notice/serval:BIB_E3CD1DDFA801#id https://serval.unil.ch/notice/serval:BIB_FC312387223F#id https://serval.unil.ch/notice/serval:BIB_6836FD75BA2C#id https://serval.unil.ch/notice/serval:BIB_8F1045CDC768#id https://archive-ouverte.unige.ch/unige:8851#id https://archive-ouverte.unige.ch/unige:8870#id https://archive-ouverte.unige.ch/unige:42274#id https://archive-ouverte.unige.ch/unige:76397#id https://archive-ouverte.unige.ch/unige:78000#id https://archive-ouverte.unige.ch/unige:8681#id https://archive-ouverte.unige.ch/unige:8776#id https://archive-ouverte.unige.ch/unige:8802#id https://archive-ouverte.unige.ch/unige:8842#id

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