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Neurofibromatosis type 1 mosaicism in patients with constitutional mismatch repair deficiency.
Guerrini-Rousseau L, Pasmant E, Muleris M, Abbou S, Adam-De-Beaumais T, Brugieres L, Cabaret O, Colas C, Cotteret S, Decq P, Dufour C, Guillerm E, Rouleau E, Varlet P, Zili S, Vidaud D, Grill J. Guerrini-Rousseau L, et al. Among authors: brugieres l. J Med Genet. 2024 Jan 19;61(2):158-162. doi: 10.1136/jmg-2023-109235. J Med Genet. 2024. PMID: 37775264 Free PMC article.
Guidelines for surveillance of individuals with constitutional mismatch repair-deficiency proposed by the European Consortium "Care for CMMR-D" (C4CMMR-D).
Vasen HF, Ghorbanoghli Z, Bourdeaut F, Cabaret O, Caron O, Duval A, Entz-Werle N, Goldberg Y, Ilencikova D, Kratz CP, Lavoine N, Loeffen J, Menko FH, Muleris M, Sebille G, Colas C, Burkhardt B, Brugieres L, Wimmer K; EU-Consortium Care for CMMR-D (C4CMMR-D). Vasen HF, et al. Among authors: brugieres l. J Med Genet. 2014 May;51(5):283-93. doi: 10.1136/jmedgenet-2013-102238. Epub 2014 Feb 20. J Med Genet. 2014. PMID: 24556086
Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium 'care for CMMRD' (C4CMMRD).
Wimmer K, Kratz CP, Vasen HF, Caron O, Colas C, Entz-Werle N, Gerdes AM, Goldberg Y, Ilencikova D, Muleris M, Duval A, Lavoine N, Ruiz-Ponte C, Slavc I, Burkhardt B, Brugieres L; EU-Consortium Care for CMMRD (C4CMMRD). Wimmer K, et al. Among authors: brugieres l. J Med Genet. 2014 Jun;51(6):355-65. doi: 10.1136/jmedgenet-2014-102284. Epub 2014 Apr 15. J Med Genet. 2014. PMID: 24737826 Review.
Patients in pediatric phase I and early phase II clinical oncology trials at Gustave Roussy: a 13-year center experience.
Bautista F, Di Giannatale A, Dias-Gastellier N, Fahd M, Valteau-Couanet D, Couanet D, Grill J, Brugières L, Dufour C, Gaspar N, Minard-Colin V, Kalifa C, Oberlin O, Patte C, Vassal G, Geoerger B. Bautista F, et al. Among authors: brugieres l. J Pediatr Hematol Oncol. 2015 Mar;37(2):e102-10. doi: 10.1097/MPH.0000000000000237. J Pediatr Hematol Oncol. 2015. PMID: 25171452 Clinical Trial.
Water and electrolyte disorders at long-term post-treatment follow-up in paediatric patients with suprasellar tumours include unexpected persistent cerebral salt-wasting syndrome.
González Briceño L, Grill J, Bourdeaut F, Doz F, Beltrand J, Benabbad I, Brugières L, Dufour C, Valteau-Couanet D, Guerrini-Rousseau L, Aerts I, Orbach D, Alapetite C, Samara-Boustani D, Pinto G, Simon A, Touraine P, Sainte-Rose C, Zerah M, Puget S, Elie C, Polak M. González Briceño L, et al. Among authors: brugieres l. Horm Res Paediatr. 2014;82(6):364-71. doi: 10.1159/000368401. Epub 2014 Nov 1. Horm Res Paediatr. 2014. PMID: 25377653 Free article.
An Unusual Case of Constitutional Mismatch Repair Deficiency Syndrome With Anaplastic Ganglioglioma, Colonic Adenocarcinoma, Osteosarcoma, Acute Myeloid Leukemia, and Signs of Neurofibromatosis Type 1: Case Report.
Daou B, Zanello M, Varlet P, Brugieres L, Jabbour P, Caron O, Lavoine N, Dhermain F, Willekens C, Beuvon F, Malka D, Lechapt-Zalcmann E, Abi Lahoud G. Daou B, et al. Among authors: brugieres l. Neurosurgery. 2015 Jul;77(1):E145-52; discussion E152. doi: 10.1227/NEU.0000000000000754. Neurosurgery. 2015. PMID: 25850602
297 results