Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database

Human Mutation

Volumn 33, Issue 3, 2012, Pages 457-466

  Bower, Matthew ^a   Salomon, Rémi ^b,c,f   Allanson, Judith ^d,e   Antignac, Corinne ^b,f   Benedicenti, Francesco ^g   Benetti, Elisa ^h   Binenbaum, Gil ⁱ   Jensen, Uffe B ^j   Cochat, Pierre ^k   Decramer, Stephane ^l,m,n   Dixon, Joanne ^o   Drouin, Regen ^p   Falk, Marni J ⁱ   Feret, Holly ⁱ   Gise, Robert ^q   Hunter, Alasdair ^d,e   Johnson, Kisha ^r   Kumar, Rajiv ^s   Lavocat, Marie Pierre ^t   Martin, Laura ^u   Morinière, Vincent ^b,c   Mowat, David ^v   Murer, Luisa ^h   Nguyen, Hiep T ^w   Peretz Amit, Gabriela ^x   Pierce, Eric ⁱ   Place, Emily ⁱ   Rodig, Nancy ^w   Salerno, Ann ^q   Sastry, Sujatha ^y   Sato, Tadashi ^z   Sayer, John A ^aa   Schaafsma, Gerard C P ^ab   Shoemaker, Lawrence ^ac   Stockton, David W ^y,ad   Tan, Wen Hann ^w   Tenconi, Romano ^h   Vanhille, Philippe ^ae   Vats, Abhay ^af   Wang, Xinjing ^ag   Warman, Berta ^ah   Weleber, Richard G ^ai   White, Susan M ^aj   Wilson Brackett, Carolyn ^ak   Zand, Dina J ^al   Eccles, Michael ^am   Schimmenti, Lisa A ^an   Heidet, Laurence ^b,c   more..

^a UNIVERSITY OF MINNESOTA MEDICAL CENTER   (United States)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

^c ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^d CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^e UNIVERSITY OF OTTAWA   (Canada)

^f UNIVERSITÉ PARIS DESCARTES   (France)

^g CENTRAL HOSPITAL OF BOLZANO   (Italy)

^h UNIVERSITY OF PADOVA   (Italy)

ⁱ CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^j AARHUS UNIVERSITY HOSPITAL   (Denmark)

^k HOSPICES CIVILS DE LYON   (France)

^l HÔPITAL DES ENFANTS   (France)

^m Centre De Référence des Maladies Rénales Rares du Sud Ouest SORARE   (France)

ⁿ University Hospital of Toulouse   (France)

^o WELLINGTON HOSPITAL   (New Zealand)

^p UNIVERSITÉ DE SHERBROOKE   (Canada)

^q UMass Memorial Children's Medical Center   (United States)

^r RUSH UNIVERSITY MEDICAL CENTER   (United States)

^s AUCKLAND CITY HOSPITAL   (New Zealand)

^t HÔPITAL NORD   (France)

^u NEMOURS CHILDREN S CLINIC   (United States)

^v SYDNEY CHILDREN'S HOSPITAL   (Australia)

^w BOSTON CHILDREN S HOSPITAL   (United States)

^x RABIN MEDICAL CENTER   (Israel)

^y CHILDREN'S HOSPITAL OF MICHIGAN   (United States)

^z SAGA UNIVERSITY   (Japan)

^aa NEWCASTLE UNIVERSITY   (United Kingdom)

^ab LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^ac UNIVERSITY OF LOUISVILLE   (United States)

^ad WAYNE STATE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^ae CENTRE HOSPITALIER DE VALENCIENNES   (France)

^af UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

^ag NATIONAL EYE INSTITUTE   (United States)

^ah Newborn Screening Program   (United States)

^ai OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^aj ROYAL CHILDREN'S HOSPITAL   (Australia)

^ak Fullerton Genetics Center   (United States)

^al CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

^am UNIVERSITY OF OTAGO   (New Zealand)

^an UNIVERSITY OF MINNESOTA MEDICAL SCHOOL   (United States)

more..

Author keywords

Papillorenal syndrome; PAX2; Renal coloboma syndrome

Indexed keywords

TRANSCRIPTION FACTOR PAX2;

ARTICLE; AUTOSOMAL DISORDER; CLINICAL LABORATORY; DATA BASE; DIAGNOSTIC PROCEDURE; EXON; EYE MALFORMATION; GENE DELETION; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENE REARRANGEMENT; GENE STRUCTURE; GENETIC ANALYSIS; GENETIC COUNSELING; GENETIC VARIABILITY; HEARING LOSS; HUMAN; INTRON; KIDNEY FUNCTION; KIDNEY MALFORMATION; KIDNEY STRUCTURE; MOSAICISM; MULTIGENE FAMILY; NONHUMAN; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PRIORITY JOURNAL; RENAL COLOBOMA SYNDROME;

ANIMALS; COLOBOMA; DATABASES, GENETIC; HUMANS; PAX2 TRANSCRIPTION FACTOR; RENAL INSUFFICIENCY; VESICO-URETERAL REFLUX;

EID: 84862776726     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22020     Document Type: Article

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