Constitutional mismatch repair deficiency syndrome: Clinical description in a French cohort

Journal of Medical Genetics

Volumn 52, Issue 11, 2015, Pages 770-778

  Lavoine, N ^a   Colas, C ^b,c,d   Muleris, M ^c,d   Bodo, S ^c,d   Duval, A ^c,d   Entz Werle, N ^e   Coulet, F ^b   Cabaret, O ^f   Andreiuolo, F ^g   Charpy, C ^h   Sebille, G ^h   Wang, Q ⁱ   Lejeune, S ^j   Buisine, M P ^j,k,l   Leroux, D ^m   Couillault, G ⁿ   Leverger, G ^g   Fricker, J P ^o   Guimbaud, R ^p   Mathieu Dramard, M ^q   Jedraszak, G ^q   Cohen Hagenauer, O ^r   Guerrini Rousseau, L ^a   Bourdeaut, F ^s   Grill, J ^a,t   Caron, O ^a   Baert Dusermont, S ^u   Tinat, J ^u   Bougeard, G ^u   Frebourg T ^u   Brugières, Laurence ^a   more..

^a Gustave Roussy Cancer Campus ^*  (France)

^b PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^c CENTRE DE RECHERCHE SAINT ANTOINE   (France)

^d SORBONNE UNIVERSITÉ   (France)

^e UNIVERSITY HOSPITAL OF STRASBOURG   (France)

^f Unit of Genetics   (France)

^g ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^h INSTITUT GUSTAVE ROUSSY   (France)

ⁱ CENTRE LÉON BÉRARD   (France)

^j LILLE UNIVERSITY HOSPITAL   (France)

^k INSERM   (France)

^l UNIV LILLE   (France)

^m GRENOBLE UNIVERSITY HOSPITAL   (France)

ⁿ DIJON UNIVERSITY HOSPITAL   (France)

^o CENTRE PAUL STRAUSS   (France)

^p INSTITUT CLAUDIUS REGAUD   (France)

^q AMIENS UNIVERSITY HOSPITAL   (France)

^r SAINT LOUIS UNIVERSITY   (United States)

^s INSTITUT CURIE   (France)

^t UNIVERSITÉ PARIS SACLAY   (France)

^u ROUEN UNIVERSITY HOSPITAL   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ASPARAGINASE; MISMATCH REPAIR PROTEIN PMS2; PROTEIN MLH1; PROTEIN MSH2; ADENOSINE TRIPHOSPHATASE; DNA BINDING PROTEIN; DNA LIGASE; G-T MISMATCH-BINDING PROTEIN; MLH1 PROTEIN, HUMAN; MSH2 PROTEIN, HUMAN; NUCLEAR PROTEIN; PMS2 PROTEIN, HUMAN; SIGNAL TRANSDUCING ADAPTOR PROTEIN;

ACUTE MYELOBLASTIC LEUKEMIA; ADOLESCENT; ADULT; ALLOGENEIC HEMATOPOIETIC STEM CELL TRANSPLANTATION; ARTICLE; BLOOD TOXICITY; BRAIN HEMANGIOMA; BRAIN HEMORRHAGE; BRAIN MALFORMATION; BRAIN TUMOR; CANCER CHEMOTHERAPY; CANCER GROWTH; CANCER MORTALITY; CANCER PROGNOSIS; CANCER RADIOTHERAPY; CANCER RECURRENCE; CANCER SURGERY; CANCER SURVIVAL; CANCER SUSCEPTIBILITY; CHILD; CHILDHOOD CANCER; CLINICAL ARTICLE; CLINICAL FEATURE; COHORT ANALYSIS; COLORECTAL ADENOMA; CONSANGUINITY; CONSTITUTIONAL MISMATCH REPAIR DEFICIENCY SYNDROME; EVENT FREE SURVIVAL; FAMILY HISTORY; FEMALE; FRANCE; GASTROINTESTINAL TUMOR; GENE MUTATION; GENETIC DISORDER; GENETIC SCREENING; GLIOBLASTOMA; GRAFT VERSUS HOST REACTION; HAMARTOMA; HEMATOLOGIC MALIGNANCY; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HUMAN; INFECTION; MALE; MEDULLOBLASTOMA; MISMATCH REPAIR; MOLECULAR DIAGNOSIS; NEUROLOGIC DISEASE; NONHODGKIN LYMPHOMA; OLIGODENDROGLIOMA; OVERALL SURVIVAL; PRIORITY JOURNAL; RETROSPECTIVE STUDY; SARCOMA; SECOND CANCER; SPINAL CORD CANCER; THROMBOEMBOLISM; TOTAL COLON RESECTION; TREATMENT FAILURE; TREATMENT OUTCOME; VENOUS THROMBOEMBOLISM; BRAIN NEOPLASMS; COLORECTAL NEOPLASMS; GENETICS; INFANT; MUTATION; NEOPLASTIC SYNDROMES, HEREDITARY; PRESCHOOL CHILD; YOUNG ADULT;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADENOSINE TRIPHOSPHATASES; ADOLESCENT; ADULT; BRAIN NEOPLASMS; CHILD; CHILD, PRESCHOOL; COLORECTAL NEOPLASMS; DNA REPAIR ENZYMES; DNA-BINDING PROTEINS; FEMALE; HUMANS; INFANT; MALE; MUTATION; MUTS HOMOLOG 2 PROTEIN; NEOPLASTIC SYNDROMES, HEREDITARY; NUCLEAR PROTEINS; TREATMENT OUTCOME; YOUNG ADULT;

EID: 84954400022     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2015-103299     Document Type: Article

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