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1.
PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects.
Am J Hum Genet
; 110(10): 1787-1803, 2023 10 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-37751738
2.
Identification of a novel CFAP61 homozygous splicing variant associated with multiple morphological abnormalities of the flagella.
J Assist Reprod Genet
; 2024 May 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-38775994
3.
Monoallelic and biallelic variants in LEF1 are associated with a new syndrome combining ectodermal dysplasia and limb malformations caused by altered WNT signaling.
Genet Med
; 24(8): 1708-1721, 2022 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-35583550
4.
Multiplex targeted high-throughput sequencing in a series of 352 patients with congenital limb malformations.
Hum Mutat
; 41(1): 222-239, 2020 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-31502745
5.
TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of RBM8A.
Hum Mutat
; 41(7): 1220-1225, 2020 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-32227665
6.
WNT10B variants in split hand/foot malformation: Report of three novel families and review of the literature.
Am J Med Genet A
; 179(7): 1351-1356, 2019 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-31050392
7.
Outcome of relapse in children and adolescents with B-cell non-Hodgkin lymphoma and mature acute leukemia: A report from the French LMB study.
Pediatr Blood Cancer
; 66(9): e27873, 2019 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-31207026
8.
Blepharocheilodontic syndrome is a CDH1 pathway-related disorder due to mutations in CDH1 and CTNND1.
Genet Med
; 19(9): 1013-1021, 2017 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-28301459
9.
Should We Pay Attention to the Delay Before Admission to a Pediatric Intensive Care Unit for Children With Cancer? Impact on 1-Month Mortality. A Report From the French Children's Oncology Study Group, GOCE.
J Pediatr Hematol Oncol
; 39(5): e244-e248, 2017 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-28267086
10.
Outcome of and prognostic factors for relapse in children and adolescents with mature B-cell lymphoma and leukemia treated in three consecutive prospective "Lymphomes Malins B" protocols. A Société Française des Cancers de l'Enfant study.
Haematologica
; 100(6): 810-7, 2015 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-25724577
11.
Vascular Mass of the Scalp in a Newborn: A Quiz.
Acta Derm Venereol
; 99(6): 627-628, 2019 May 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-30673113
12.
Recurrent "outsider" intronic variation in the SLC5A6 gene causes severe mixed axonal and demyelinating neuropathy, cyclic vomiting and optic atrophy in 3 families from Maghreb.
Front Genet
; 15: 1352006, 2024.
Artículo
en Inglés
| MEDLINE | ID: mdl-38348452
13.
EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia.
J Med Genet
; 49(12): 737-46, 2012 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-23188108
14.
Neurotrophic tropomyosin receptor kinase (NTRK) fusion positive tumors: a historical cohort analysis.
Expert Rev Anticancer Ther
; 23(8): 865-874, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37434345
15.
Dasatinib-associated follicular lymphoid hyperplasia: First pediatric case report and literature review.
Pediatr Blood Cancer
; 64(11)2017 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-28439970
16.
A case of severe toxicity during coadministration of vincristine and piperacillin: are drug transporters involved in vincristine hypersensitivity and drug-drug interactions?
J Pediatr Hematol Oncol
; 34(8): e341-3, 2012 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-22627576
17.
SMARCA4-Mutated Atypical Teratoid/Rhabdoid Tumor with Retained BRG1 Expression.
Pediatr Blood Cancer
; 63(3): 568-9, 2016 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-26469284
18.
[The nutritional care of a child suffering from neuroblastoma]. / La prise en charge nutritionnelle d'un enfant atteint de neuroblastome.
Soins Pediatr Pueric
; (260): 39-43, 2011.
Artículo
en Francés
| MEDLINE | ID: mdl-21702212
19.
Identification of limb-specific Lmx1b auto-regulatory modules with Nail-patella syndrome pathogenicity.
Nat Commun
; 12(1): 5533, 2021 09 20.
Artículo
en Inglés
| MEDLINE | ID: mdl-34545091
20.
Is pegfilgrastim safe and effective in congenital neutropenia? An analysis of the French Severe Chronic Neutropenia registry.
Pediatr Blood Cancer
; 53(6): 1068-73, 2009 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-19618456