Literature DB >> 26808570

Successful matched sibling cord blood transplant for ALL in a child with constitutional mismatch repair deficiency syndrome.

J A Heath1, M Campbell2, K Tiedemann2, P A Downie3.   

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Year:  2016        PMID: 26808570     DOI: 10.1038/bmt.2015.353

Source DB:  PubMed          Journal:  Bone Marrow Transplant        ISSN: 0268-3369            Impact factor:   5.483


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  11 in total

Review 1.  Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort.

Authors:  N Lavoine; C Colas; M Muleris; S Bodo; A Duval; N Entz-Werle; F Coulet; O Cabaret; F Andreiuolo; C Charpy; G Sebille; Q Wang; S Lejeune; M P Buisine; D Leroux; G Couillault; G Leverger; J P Fricker; R Guimbaud; M Mathieu-Dramard; G Jedraszak; O Cohen-Hagenauer; L Guerrini-Rousseau; F Bourdeaut; J Grill; O Caron; S Baert-Dusermont; J Tinat; G Bougeard; T Frébourg; L Brugières
Journal:  J Med Genet       Date:  2015-08-28       Impact factor: 6.318

2.  Management of Acute Myeloblastic Leukemia in a Child With Biallelic Mismatch Repair Deficiency.

Authors:  Ronit Elhasid; Rina Dvir; Hila Rosenfeld Keidar; Shay Ben Shachar; Menachem Bitan; Irit Solar; Carol Durno; Melyssa Aronson; David Malkin; Cynthia Hawkins; Eric Bouffet; Uri Tabori
Journal:  J Pediatr Hematol Oncol       Date:  2015-11       Impact factor: 1.289

3.  Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: report from the constitutional mismatch repair deficiency consortium.

Authors:  Doua Bakry; Melyssa Aronson; Carol Durno; Hala Rimawi; Roula Farah; Qasim Kholaif Alharbi; Musa Alharbi; Ashraf Shamvil; Shay Ben-Shachar; Matthew Mistry; Shlomi Constantini; Rina Dvir; Ibrahim Qaddoumi; Steven Gallinger; Jordan Lerner-Ellis; Aaron Pollett; Derek Stephens; Steve Kelies; Elizabeth Chao; David Malkin; Eric Bouffet; Cynthia Hawkins; Uri Tabori
Journal:  Eur J Cancer       Date:  2014-01-15       Impact factor: 9.162

Review 4.  Mismatch repair pathway: molecules, functions, and role in colorectal carcinogenesis.

Authors:  Aga Syed Sameer; Saniya Nissar; Kaneez Fatima
Journal:  Eur J Cancer Prev       Date:  2014-07       Impact factor: 2.497

5.  Prediction of germline mutations and cancer risk in the Lynch syndrome.

Authors:  Sining Chen; Wenyi Wang; Shing Lee; Khedoudja Nafa; Johanna Lee; Kathy Romans; Patrice Watson; Stephen B Gruber; David Euhus; Kenneth W Kinzler; Jeremy Jass; Steven Gallinger; Noralane M Lindor; Graham Casey; Nathan Ellis; Francis M Giardiello; Kenneth Offit; Giovanni Parmigiani
Journal:  JAMA       Date:  2006-09-27       Impact factor: 56.272

6.  Guidelines for surveillance of individuals with constitutional mismatch repair-deficiency proposed by the European Consortium "Care for CMMR-D" (C4CMMR-D).

Authors:  H F A Vasen; Z Ghorbanoghli; F Bourdeaut; O Cabaret; O Caron; A Duval; N Entz-Werle; Y Goldberg; D Ilencikova; C P Kratz; N Lavoine; J Loeffen; F H Menko; M Muleris; G Sebille; C Colas; B Burkhardt; L Brugieres; K Wimmer
Journal:  J Med Genet       Date:  2014-02-20       Impact factor: 6.318

Review 7.  Constitutional mismatch repair-deficiency syndrome: have we so far seen only the tip of an iceberg?

Authors:  Katharina Wimmer; Julia Etzler
Journal:  Hum Genet       Date:  2008-08-18       Impact factor: 4.132

8.  Neurofibromatosis and early onset of cancers in hMLH1-deficient children.

Authors:  Q Wang; C Lasset; F Desseigne; D Frappaz; C Bergeron; C Navarro; E Ruano; A Puisieux
Journal:  Cancer Res       Date:  1999-01-15       Impact factor: 12.701

Review 9.  Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium 'care for CMMRD' (C4CMMRD).

Authors:  Katharina Wimmer; Christian P Kratz; Hans F A Vasen; Olivier Caron; Chrystelle Colas; Natacha Entz-Werle; Anne-Marie Gerdes; Yael Goldberg; Denisa Ilencikova; Martine Muleris; Alex Duval; Noémie Lavoine; Clara Ruiz-Ponte; Irene Slavc; Brigit Burkhardt; Laurence Brugieres
Journal:  J Med Genet       Date:  2014-04-15       Impact factor: 6.318

10.  Lynch syndrome: an updated review.

Authors:  Rishabh Sehgal; Kieran Sheahan; Patrick R O'Connell; Ann M Hanly; Sean T Martin; Desmond C Winter
Journal:  Genes (Basel)       Date:  2014-06-27       Impact factor: 4.096

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  2 in total

1.  B-cell acute lymphoblastic leukemia with high mutation burden presenting in a child with constitutional mismatch repair deficiency.

Authors:  Benjamin Oshrine; Nanette Grana; Colin Moore; Johnny Nguyen; Melissa Crenshaw; Melissa Edwards; Sumedha Sudhaman; Victoria J Forster; Uri Tabori
Journal:  Blood Adv       Date:  2019-06-25

2.  A Constitutional Mismatch Repair Deficiency Syndrome Presented With an Advanced Rectal Cancer in a Juvenile Female: A Case Report and Literature Review.

Authors:  Mohammed N AlAli; Abdulrahman H Zikry; Sulaiman A AlShammari; Mohammed Ayesh Zayed; Mohammed Alswayyed; Omar A AlObeed
Journal:  Cureus       Date:  2022-04-30
  2 in total

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