Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis

Genome Medicine

Volumn 10, Issue 1, 2018, Pages

  Knaus, Alexej ^a,b,c   Pantel, Jean Tori ^a   Pendziwiat, Manuela ^d   Hajjir, Nurulhuda ^a   Zhao, Max ^a   Hsieh, Tzung Chien ^a,c   Schubach, Max ^a,e   Gurovich, Yaron ^f   Fleischer, Nicole ^f   Jäger, Marten ^a,e   Köhler, Sebastian ^a   Muhle, Hiltrud ^d   Korff, Christian ^g   Møller, Rikke S ^h,i   Bayat, Allan ^j   Calvas, Patrick ^k   Chassaing, Nicolas ^k   Warren, Hannah ^l   Skinner, Steven ^l   Louie, Raymond ^l   Evers, Christina ^m   Bohn, Marc ⁿ   Christen, Hans Jürgen ^o   van den Born, Myrthe ^p   Obersztyn, Ewa ^q   Charzewska, Agnieszka ^q   Endziniene, Milda ^r   Kortüm, Fanny ^s   Brown, Natasha ^t,u   Robinson, Peter N ^v   Schelhaas, Helenius J ^w   Weber, Yvonne ^x   Helbig, Ingo ^c,y   Mundlos, Stefan ^a,b   Horn, Denise ^a   Krawitz, Peter M ^a,b,c   more..

^a CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^b MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^c UNIVERSITY HOSPITAL BONN   (Germany)

^d UNIVERSITY HOSPITAL SCHLESWIG HOLSTEIN   (Germany)

^e BERLIN INSTITUTE OF HEALTH   (Germany)

^f Mercedes Benz rDNA   (United States)

^g UNIVERSITY OF GENEVA   (Switzerland)

^h DANISH EPILEPSY CENTRE   (Denmark)

ⁱ UNIVERSITY OF SOUTHERN DENMARK   (Denmark)

^j HVIDOVRE HOSPITAL   (Denmark)

^k CHU PURPAN   (France)

^l JC Self Research Institute of Human Genetics   (United States)

^m UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

ⁿ ST BERNWARD KRANKENHAUS   (Germany)

^o KINDERKRANKENHAUS AUF DER BULT   (Germany)

^p ERASMUS MEDICAL CENTER   (Netherlands)

^q INSTITUTE OF MOTHER AND CHILD   (Poland)

^r LITHUANIAN UNIVERSITY OF HEALTH SCIENCES   (Lithuania)

^s UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^t ROYAL CHILDREN'S HOSPITAL   (Australia)

^u AUSTIN HEALTH   (Australia)

^v JACKSON LABORATORY   (United States)

^w Academic Centre of Epileptology   (Netherlands)

^x UNIVERSITY OF TÜBINGEN   (Germany)

^y CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

more..

Author keywords

Anchor biosynthesis defects; Automated image analysis; Gene; GPI; Prediction

Indexed keywords

5' NUCLEOTIDASE; CD59 ANTIGEN; DECAY ACCELERATING FACTOR; GLYCOSYLPHOSPHATIDYLINOSITOL; BIOLOGICAL MARKER;

ACCURACY; AREA UNDER THE CURVE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BLOOD CELL; CLINICAL FEATURE; CONGENITAL MALFORMATION; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; DISEASE MARKER; DISEASE SEVERITY; FIBROBLAST; FLOW CYTOMETRY; GENE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT; GPIBD GENE; GRANULOCYTE; HUMAN; IMAGE ANALYSIS; MAJOR CLINICAL STUDY; PGAP3 GENE; PHENOTYPE; PIGV GENE; PREDICTIVE VALUE; PRIORITY JOURNAL; REPRODUCIBILITY; SEIZURE; AUTOMATION; BIOSYNTHESIS; DISORDERS OF MINERAL, ELECTROLYTE AND METAL METABOLISM; IMAGE PROCESSING; INTELLECTUAL IMPAIRMENT; METABOLISM; MULTIPLE MALFORMATION SYNDROME; PROCEDURES; SYNDROME;

ABNORMALITIES, MULTIPLE; AUTOMATION; BIOMARKERS; FLOW CYTOMETRY; GLYCOSYLPHOSPHATIDYLINOSITOLS; HUMANS; IMAGE PROCESSING, COMPUTER-ASSISTED; INTELLECTUAL DISABILITY; PHENOTYPE; PHOSPHORUS METABOLISM DISORDERS; SYNDROME;

EID: 85040332959     PISSN: None     EISSN: 1756994X     Source Type: Journal    
DOI: 10.1186/s13073-017-0510-5     Document Type: Article

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