VS
Schwitzgebel Luscher, Valérie
Title | Published in | Access level | OA Policy | Year | Views | Downloads | |
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Diagnostic précoce du diabète de type 1 : une avancée vers la médecine de précision | Revue médicale suisse | 2025 | 15 | 0 | |||
Exploring the therapeutic potential of precision medicine in rare genetic obesity disorders : a scientific perspective | Frontiers in Nutrition | 2024 | 22 | 8 | |||
Enhancing fetal outcomes in GCK-MODY pregnancies : a precision medicine approach via non-invasive prenatal GCK mutation detection | Frontiers in medicine | 2024 | 44 | 18 | |||
Les addictions en pédiatrie | Revue médicale suisse | 2024 | 34 | 1 | |||
Atypical diabetes with spontaneous remission associated with systemic lupus erythematosus in an adolescent girl of African ancestry, a case report | BMC endocrine disorders | 2023 | 23 | 26 | |||
Utilité clinique des genome boards pour les maladies génétiques complexes | Revue médicale suisse | 2023 | 123 | 4 | |||
Diabète monogénique : pionnier dans la prise en charge par la médecine de précision | Revue médicale suisse | 2023 | 28 | 9 | |||
Obésité infantile : nouveautés thérapeutiques ciblées | Revue médicale suisse | 2023 | 47 | 29 | |||
Noninvasive prenatal diagnosis of Mendelian disorders for consanguineous couples by relative genotype dosage | Clinical genetics | 2023 | 53 | 24 | |||
Aktuelle Herausforderungen in der Therapie des Typ-1-Diabetes beim Kind | Swiss medical forum | 2023 | 75 | 32 | |||
Predictors of surgical complications in boys with hypospadias : data from an internationa registry | World journal of pediatric surgery | 2023 | 47 | 18 | |||
Plaidoyer pour une pédiatrie de précision | Revue médicale suisse | 2023 | 42 | 19 | |||
La pédiatrie à l’épreuve du polyhandicap | Revue médicale suisse | 2022 | 41 | 19 | |||
Loss of Nexmif results in the expression of phenotypic variability and loss of genomic integrity | Scientific reports | 2022 | 184 | 96 | |||
Hepatic non-parenchymal S100A9-TLR4-mTORC1 axis normalizes diabetic ketogenesis | Nature communications | 2022 | 308 | 72 | |||
Pancreatic beta-cell function dynamics in youth with GCK, HNF1A, and KCNJ11 genes mutations during mixed meal tolerance test | Pediatric diabetes | 2022 | 39 | 26 | |||
Co-segregation analysis and functional trial in vivo of candidate genes for monogenic diabetes | BMJ open diabetes research and care | 2022 | 69 | 22 | |||
Les enjeux pédiatriques autour de la pandémie de Covid-19 | Revue médicale suisse | 2021 | 46 | 19 | |||
Diabète de type MODY : une entité souvent méconnue | Revue médicale suisse | 2021 | 108 | 52 | |||
Precision medicine in diabetes: A non-invasive prenatal diagnostic test for the determination of fetal glucokinase mutations | Journal of diabetes investigation | 2021 | 46 | 99 | |||
Sphingosine‐1‐phosphate as a key player of insulin secretion induced by high‐density lipoprotein treatment | Physiological reports | 2021 | 209 | 101 | |||
Kinetics of C-peptide during mixed meal test and its value for treatment optimization in monogenic diabetes patients | Diabetes research and clinical practice | 2021 | 46 | 22 | |||
Systematic genetic study of diabetic youth in a single country reveals the prevalence of diabetes subtypes, novel candidate genes, and response to precision therapy | Diabetes | 2020 | 370 | 512 | |||
Hyperinsulinism associated with GLUD1 mutation: allosteric regulation and functional characterization of p.G446V glutamate dehydrogenase | Human Genomics | 2020 | 427 | 216 | |||
La pédiatrie avant la naissance | Revue médicale suisse | 2020 | 142 | 0 | |||
Global Inequality in Type 1 Diabetes: a Comparison of Switzerland and Low-and Middle-Income Countries | Pediatric endocrinology reviews : PER | 2020 | 323 | 0 | |||
Exome sequencing identifies a de novo FOXA2 variant in a patient with syndromic diabetes | Pediatric Diabetes | 2019 | 325 | 3 | |||
Factors affecting cardiovascular risk in children, adolescents, and young adults with type 1 diabetes | Journal of Diabetes Research | 2019 | 291 | 175 | |||
Early Onset Diabetes in Two Children due to Progeria, a Monogenic Disease of DNA Repair | Journal of Clinical Research in Pediatric Endocrinology | 2019 | 219 | 0 | |||
Les enjeux autour de l'alimentation de l'enfant | Revue médicale suisse | 2019 | 246 | 155 | |||
Transgender youth: implementation of a specialized multidisciplinary team care | Joint Annual Meeting Swiss Society of Paediatrics, Swiss Society of Paediatric Surgery and Swiss Society of Child and Adolescent Psychiatry and Psychotherapy | 2018 | 274 | 131 | |||
Combined Pancreatic Islet-Lung-Liver Transplantation in a Pediatric Patient with Cystic Fibrosis-Related Diabetes | Hormone Research in Paediatrics | 2018 | 511 | 1 | |||
An Intervention by a Patient-Designed Do-It-Yourself Mobile Device App Reduces HbA1c in Children and Adolescents with Type 1 Diabetes: A Randomized Double-Crossover Study | Diabetes Technology & Therapeutics | 2018 | 392 | 0 | |||
KLB, encoding β-Klotho, is mutated in patients with congenital hypogonadotropic hypogonadism | EMBO Molecular Medicine | 2017 | 494 | 226 | |||
Somapacitan, a once-weekly reversible albumin-binding GH derivative, in children with GH deficiency: A randomized dose-escalation trial | Clinical Endocrinology | 2017 | 417 | 0 | |||
Precision medicine for monogenic diabetes: from a survey to the development of a next-generation diagnostic panel | Swiss Medical Weekly | 2017 | 485 | 198 | |||
Ketosis After Cardiopulmonary Bypass in Children Is Associated With an Inadequate Balance Between Oxygen Transport and Consumption | Pediatric Critical Care Medicine | 2016 | 496 | 1 | |||
The course of diabetes in children, adolescents and young adults: does the autoimmunity status matter? | BMC Endocrine Disorders | 2016 | 462 | 190 | |||
Diabetic Striatopathy in Childhood: A Case Report | Pediatrics | 2016 | 589 | 1 | |||
Activation of nicotinic acetylcholine receptors decreases apoptosis in human and female murine pancreatic islets | Endocrinology | 2016 | 534 | 246 | |||
Genetic Defects of the β-Cell That Cause Diabetes | Endocrine development | 2016 | 542 | 3 | |||
Diabetes distress in males and females with type 1 diabetes in adolescence and emerging adulthood | Journal of Diabetes and its Complications | 2016 | 464 | 1 | |||
Insulin secretion response during oral glucose tolerance test is related to low cardiorespiratory fitness in obese adolescents | Journal of pediatric endocrinology & metabolism | 2015 | 574 | 1 | |||
Diabetes and immune thrombocytopenic purpura: a new association with good response to anti-CD20 therapy | Pediatric diabetes | 2015 | 1,044 | 1 | |||
Transition en diabétologie | Revue médicale suisse | 2015 | 517 | 1 | |||
Widespread intracranial calcifications in the follow-up of a patient with cartilage-hair hypoplasia--anauxetic dysplasia spectrum disorder: a coincidental finding? | European journal of paediatric neurology | 2015 | 631 | 0 | |||
Gene Variants Associated with Transient Neonatal Diabetes Mellitus in the Very Low Birth Weight Infant | Hormone research in paediatrics | 2015 | 534 | 2 | |||
Concomitant alpha7 and beta2 nicotinic AChR subunit deficiency leads to impaired energy homeostasis and increased physical activity in mice | Molecular genetics and metabolism | 2014 | 640 | 554 | |||
Many faces of monogenic diabetes | Journal of diabetes investigation | 2014 | 602 | 284 | |||
A novel SRY mutation leads to asymmetric SOX9 activation and is responsible for mixed 46,XY gonadal dysgenesis | Hormone research in paediatrics | 2012 | 620 | 0 | |||
Early metabolic defects in dexamethasone-exposed and undernourished intrauterine growth restricted rats | PloS one | 2012 | 689 | 357 | |||
Inflammatory and prothrombotic states in obese children of European descent | Obesity | 2012 | 516 | 0 | |||
Elevated E-selectin and diastolic blood pressure in diabetic children | European journal of clinical investigation | 2012 | 606 | 0 | |||
Diabète de l'enfant, de l'insulino-vers l'immunothérapie: une prise en charge globale du présent vers le futur | Revue médicale suisse | 2011 | 581 | 0 | |||
Encephalitis associated with glutamic acid decarboxylase autoantibodies in a child: a treatable condition? | Archives of neurology | 2011 | 640 | 0 | |||
Electrogastrography abnormalities appear early in children with diabetes type 1 | European journal of gastroenterology & hepatology | 2011 | 443 | 0 | |||
Aplasia cutis congenita in surviving co-twin after propylthiouracil exposure in utero | Journal of pediatric endocrinology & metabolism | 2011 | 534 | 0 | |||
A homozygous missense mutation in SCNN1A is responsible for a transient neonatal form of pseudohypoaldosteronism type 1 | American journal of physiology: endocrinology and metabolism | 2011 | 590 | 0 | |||
Pancreas development in health and disease | 2010 | 555 | 11 | ||||
Modeling intrauterine growth retardation in rodents: Impact on pancreas development and glucose homeostasis | Molecular and cellular endocrinology | 2009 | 649 | 0 | |||
Perinatal exposure to bisphenol a alters early adipogenesis in the rat | Environmental health perspectives | 2009 | 569 | 0 | |||
Prenatal nicotine exposure and the programming of metabolic and cardiovascular disorders | Molecular and cellular endocrinology | 2009 | 623 | 1 | |||
Favoriser le passage de la pédiatrie aux structures de soins pour adultes des adolescents diabétiques | Soins | 2009 | 482 | 0 | |||
Prenatal nicotine exposure alters early pancreatic islet and adipose tissue development with consequences on the control of body weight and glucose metabolism later in life | Endocrinology | 2008 | 574 | 0 | |||
Diabète de type 2 en pédiatrie : diagnostic et prise en charge | Revue médicale suisse | 2007 | 382 | 0 | |||
Rôle de l'épigénétique dans le diabète et la croissance | Revue médicale suisse | 2007 | 372 | 2 | |||
L'enfant diabétique et les spécificités de son traitement insulinique | Revue médicale suisse | 2007 | 500 | 2 | |||
A cross-sectional international survey of continuous subcutaneous insulin infusion in 377 children and adolescents with type 1 diabetes mellitus from 10 countries | Pediatric diabetes | 2005 | 535 | 0 | |||
Severe congenital hyperinsulinism caused by a mutation in the Kir6.2 subunit of the adenosine triphosphate-sensitive potassium channel impairing trafficking and function | The Journal of clinical endocrinology and metabolism | 2005 | 654 | 354 | |||
The zinc finger-containing transcription factor Gata-4 is expressed in the developing endocrine pancreas and activates glucagon gene expression | Molecular endocrinology | 2005 | 580 | 0 | |||
Traitement par hormone de croissance : phase de transition de l'enfance à l'âge adulte | Revue médicale suisse | 2005 | 485 | 0 | |||
Exercice physique et développement osseux de l'enfant malade chronique | Revue médicale de la Suisse romande | 2004 | 485 | 0 | |||
Diabète de type 2 : une nouvelle maladie pédiatrique | Médecine et hygiène | 2004 | 541 | 0 | |||
Agenesis of human pancreas due to decreased half-life of insulin promoter factor 1 | The Journal of clinical endocrinology and metabolism | 2003 | 595 | 0 | |||
Hepatic nuclear factor-3 (HNF-3 or Foxa2) regulates glucagon gene transcription by binding to the G1 and G2 promoter elements | Molecular endocrinology | 2002 | 498 | 0 | |||
Programming of the pancreas | Molecular and cellular endocrinology | 2001 | 456 | 0 | |||
Homeobox gene Nkx6.1 lies downstream of Nkx2.2 in the major pathway of beta-cell formation in the pancreas | Development | 2000 | 427 | 1,001 | |||
beta-cell transcription factors and diabetes: no evidence for diabetes-associated mutations in the gene encoding the basic helix-loop-helix transcription factor neurogenic differentiation 4 (NEUROD4) in Japanese patients with MODY | Diabetes | 2000 | 513 | 1 |