Detalhe da pesquisa
1.
Exagamglogene Autotemcel for Severe Sickle Cell Disease.
N Engl J Med
; 390(18): 1649-1662, 2024 May 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38661449
2.
Constitutional Microsatellite Instability, Genotype, and Phenotype Correlations in Constitutional Mismatch Repair Deficiency.
Gastroenterology
; 164(4): 579-592.e8, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36586540
3.
Genetic modifiers of fetal hemoglobin affect the course of sickle cell disease in patients treated with hydroxyurea.
Haematologica
; 107(7): 1577-1588, 2022 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34706496
4.
Complete Tracheal Ring Deformity, Recurrent Pneumothoraces and Pleuropulmonary Blastoma in a Child: Coincidence or Common Genetic Cause?
Klin Padiatr
; 234(5): 311-313, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-35114704
5.
High-sensitivity microsatellite instability assessment for the detection of mismatch repair defects in normal tissue of biallelic germline mismatch repair mutation carriers.
J Med Genet
; 57(4): 269-273, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31494577
6.
Sickle cell disease in Germany: Results from a national registry.
Pediatr Blood Cancer
; 67(4): e28130, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31867835
7.
A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes.
Hum Mutat
; 40(5): 649-655, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30740824
8.
Newborn screening by tandem mass spectrometry confirms the high prevalence of sickle cell disease among German newborns.
Ann Hematol
; 98(1): 47-53, 2019 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-30132072
9.
Newborn screening for sickle cell disease in Europe: recommendations from a Pan-European Consensus Conference.
Br J Haematol
; 183(4): 648-660, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30334577
10.
Cognitive and fine motor deficits in a pediatric sickle cell disease cohort of mixed ethnic origin.
Ann Hematol
; 96(2): 199-213, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-27796476
11.
Simultaneous newborn screening for sickle cell disease, biotinidase deficiency, and hereditary tyrosinemia type 1 with an optimized tandem mass spectrometry protocol.
Ann Hematol
; 101(8): 1859-1860, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35293609
12.
The epidemiology of sickle cell disease in Germany following recent large-scale immigration.
Pediatr Blood Cancer
; 64(7)2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28383793
13.
Haematological characteristics and spontaneous haematological recovery in Pearson syndrome.
Br J Haematol
; 193(6): 1283-1287, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33837965
14.
Guido Fanconi (1892-1979): a jack of all trades.
Nat Rev Cancer
; 6(11): 893-8, 2006 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-17036037
15.
Sickle cell disease landscape and challenges in the EU: the ERN-EuroBloodNet perspective.
Lancet Haematol
; 10(8): e687-e694, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37451300
16.
Introduction of Universal Newborn Screening for Sickle Cell Disease in Germany-A Brief Narrative Review.
Int J Neonatal Screen
; 7(1)2021 Jan 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-33525323
17.
Benefits of a Disease Management Program for Sickle Cell Disease in Germany 2011-2019: The Increased Use of Hydroxyurea Correlates with a Reduced Frequency of Acute Chest Syndrome.
J Clin Med
; 10(19)2021 Sep 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-34640578
18.
[What's new in diagnostics and treatment of hemoglobinopathies?] / Was ist neu in der Diagnostik und Therapie der Hämoglobinopathien?
Dtsch Med Wochenschr
; 144(11): 719-723, 2019 06.
Artigo
em Alemão
| MEDLINE | ID: mdl-31163468
19.
Thalassemias: An Overview.
Int J Neonatal Screen
; 5(1): 16, 2019 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-33072976
20.
A Medication Adherence App for Children With Sickle Cell Disease: Qualitative Study.
JMIR Mhealth Uhealth
; 7(6): e8130, 2019 06 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-31215518