Highly sensitive diagnosis of 43 monogenic forms of diabetes or obesity through one-step pcrbased enrichment in combination with next-generation sequencing

Diabetes Care

Volumn 37, Issue 2, 2014, Pages 460-467

  Bonnefond, Amélie ^a,b,c,d   Philippe, Julien ^a,b,c   Durand, Emmanuelle ^a,b,c   Muller, Jean ^e,f   Saeed, Sadia ^g   Arslan, Muhammad ^h   Martïnez, Rosa ⁱ   De Graeve, Franck ^a,b,c   Dhennin, Véronique ^a,b,c   Rabearivelo, Iandry ^a,b,c   Polak, Michel ^j,k   Cavé, Hélène ^l   Castaño, Luis ⁱ   Vaxillaire, Martine ^a,b,c   Mandel, Jean Louis ^e,f,m   Sand, Olivier ^a,b,c   Froguel, Philippe ^a,b,c,d,g  

^a France   (France)

^b INSTITUT PASTEUR DE LILLE   (France)

^c UNIV LILLE   (France)

^d HAMAD BIN KHALIFA UNIVERSITY   (Qatar)

^e UNIVERSITÉ DE STRASBOURG   (France)

^f UNIVERSITY HOSPITAL OF STRASBOURG   (France)

^g HAMMERSMITH HOSPITAL   (United Kingdom)

^h FORMAN CHRISTIAN COLLEGE A CHARTERED UNIVERSITY   (Pakistan)

ⁱ HOSPITAL DE CRUCES   (Spain)

^j INSERM   (France)

^k HÔPITAL NECKER ENFANTS MALADES   (France)

^l HÔPITAL ROBERT DEBRÉ   (France)

^m The Collège de France   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; ARGININE; GLYCINE; LEUCINE; PROLINE; THREONINE; VALINE;

ABCC8 GENE; ADOLESCENT; ADULT; ARTICLE; BASE PAIRING; BBS14 GENE; BBS6 GENE; BBS7 GENE; BBS8 GENE; BBS9 GENE; CEL GENE; CEP290 GENE; CLINICAL ARTICLE; CONTROLLED STUDY; COST EFFECTIVENESS ANALYSIS; DIABETES MELLITUS; DISEASE CLASSIFICATION; DNA SEQUENCE; EXON; GENE; GENE LOCUS; GENE MUTATION; GENETIC ASSOCIATION; GENETIC SCREENING; GENETIC SUSCEPTIBILITY; HETEROZYGOSITY; HIGH THROUGHPUT SCREENING; HNF1B GENE; HOMOZYGOSITY; HUMAN; INTRON; KCNJ11 GENE; LEPR GENE; MC4R GENE; MICROFLUIDIC ANALYSIS; MISSENSE MUTATION; MOLECULAR DIAGNOSIS; MONOGENIC DISORDER; MULTIGENE FAMILY; NEXT GENERATION SEQUENCING; NUCLEOTIDE SEQUENCE; OBESITY; POLYMERASE CHAIN REACTION; POLYMERASE CHAIN REACTION SYSTEM; SENSITIVITY ANALYSIS; TTC8 GENE; CHILD; COST BENEFIT ANALYSIS; ECONOMICS; EVALUATION STUDY; GENETICS; HIGH THROUGHPUT SEQUENCING; MUTATION; PRESCHOOL CHILD; PROCEDURES; SENSITIVITY AND SPECIFICITY;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; COST-BENEFIT ANALYSIS; DIABETES MELLITUS; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MUTATION; OBESITY; POLYMERASE CHAIN REACTION; SENSITIVITY AND SPECIFICITY;

EID: 84893039682     PISSN: 01495992     EISSN: 19355548     Source Type: Journal    
DOI: 10.2337/dc13-0698     Document Type: Article

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