VS
Schwitzgebel Luscher, Valérie
Title | Published in | Access level | OA Policy | Year | Views | Downloads | |
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Enhancing fetal outcomes in GCK-MODY pregnancies : a precision medicine approach via non-invasive prenatal GCK mutation detection | Frontiers in medicine | 2024 | 28 | 13 | |||
Les addictions en pédiatrie | Revue médicale suisse | 2024 | 30 | 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 | 18 | 16 | |||
Utilité clinique des genome boards pour les maladies génétiques complexes | Revue médicale suisse | 2023 | 94 | 4 | |||
Diabète monogénique : pionnier dans la prise en charge par la médecine de précision | Revue médicale suisse | 2023 | 24 | 7 | |||
Obésité infantile : nouveautés thérapeutiques ciblées | Revue médicale suisse | 2023 | 26 | 27 | |||
Noninvasive prenatal diagnosis of Mendelian disorders for consanguineous couples by relative genotype dosage | Clinical genetics | 2023 | 45 | 22 | |||
Aktuelle Herausforderungen in der Therapie des Typ-1-Diabetes beim Kind | Swiss medical forum | 2023 | 59 | 25 | |||
Predictors of surgical complications in boys with hypospadias : data from an internationa registry | World journal of pediatric surgery | 2023 | 39 | 12 | |||
Plaidoyer pour une pédiatrie de précision | Revue médicale suisse | 2023 | 36 | 15 | |||
La pédiatrie à l’épreuve du polyhandicap | Revue médicale suisse | 2022 | 37 | 15 | |||
Loss of Nexmif results in the expression of phenotypic variability and loss of genomic integrity | Scientific reports | 2022 | 176 | 91 | |||
Hepatic non-parenchymal S100A9-TLR4-mTORC1 axis normalizes diabetic ketogenesis | Nature communications | 2022 | 299 | 68 | |||
Pancreatic beta-cell function dynamics in youth with GCK, HNF1A, and KCNJ11 genes mutations during mixed meal tolerance test | Pediatric diabetes | 2022 | 31 | 23 | |||
Co-segregation analysis and functional trial in vivo of candidate genes for monogenic diabetes | BMJ open diabetes research and care | 2022 | 58 | 18 | |||
Les enjeux pédiatriques autour de la pandémie de Covid-19 | Revue médicale suisse | 2021 | 41 | 14 | |||
Diabète de type MODY : une entité souvent méconnue | Revue médicale suisse | 2021 | 94 | 38 | |||
Precision medicine in diabetes: A non-invasive prenatal diagnostic test for the determination of fetal glucokinase mutations | Journal of diabetes investigation | 2021 | 41 | 85 | |||
Sphingosine‐1‐phosphate as a key player of insulin secretion induced by high‐density lipoprotein treatment | Physiological reports | 2021 | 197 | 98 | |||
Kinetics of C-peptide during mixed meal test and its value for treatment optimization in monogenic diabetes patients | Diabetes research and clinical practice | 2021 | 34 | 19 | |||
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 | 360 | 501 | |||
Hyperinsulinism associated with GLUD1 mutation: allosteric regulation and functional characterization of p.G446V glutamate dehydrogenase | Human Genomics | 2020 | 418 | 209 | |||
La pédiatrie avant la naissance | Revue médicale suisse | 2020 | 137 | 0 | |||
Global Inequality in Type 1 Diabetes: a Comparison of Switzerland and Low-and Middle-Income Countries | Pediatric endocrinology reviews : PER | 2020 | 309 | 0 | |||
Exome sequencing identifies a de novo FOXA2 variant in a patient with syndromic diabetes | Pediatric Diabetes | 2019 | 316 | 3 | |||
Factors affecting cardiovascular risk in children, adolescents, and young adults with type 1 diabetes | Journal of Diabetes Research | 2019 | 282 | 171 | |||
Early Onset Diabetes in Two Children due to Progeria, a Monogenic Disease of DNA Repair | Journal of Clinical Research in Pediatric Endocrinology | 2019 | 213 | 0 | |||
Les enjeux autour de l'alimentation de l'enfant | Revue médicale suisse | 2019 | 243 | 154 | |||
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 | 270 | 127 | |||
Combined Pancreatic Islet-Lung-Liver Transplantation in a Pediatric Patient with Cystic Fibrosis-Related Diabetes | Hormone Research in Paediatrics | 2018 | 503 | 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 | 383 | 0 | |||
KLB, encoding β-Klotho, is mutated in patients with congenital hypogonadotropic hypogonadism | EMBO Molecular Medicine | 2017 | 483 | 217 | |||
Somapacitan, a once-weekly reversible albumin-binding GH derivative, in children with GH deficiency: A randomized dose-escalation trial | Clinical Endocrinology | 2017 | 402 | 0 | |||
Precision medicine for monogenic diabetes: from a survey to the development of a next-generation diagnostic panel | Swiss Medical Weekly | 2017 | 476 | 197 | |||
Ketosis After Cardiopulmonary Bypass in Children Is Associated With an Inadequate Balance Between Oxygen Transport and Consumption | Pediatric Critical Care Medicine | 2016 | 482 | 1 | |||
The course of diabetes in children, adolescents and young adults: does the autoimmunity status matter? | BMC Endocrine Disorders | 2016 | 452 | 187 | |||
Diabetic Striatopathy in Childhood: A Case Report | Pediatrics | 2016 | 578 | 1 | |||
Activation of nicotinic acetylcholine receptors decreases apoptosis in human and female murine pancreatic islets | Endocrinology | 2016 | 521 | 242 | |||
Genetic Defects of the β-Cell That Cause Diabetes | Endocrine development | 2016 | 511 | 3 | |||
Diabetes distress in males and females with type 1 diabetes in adolescence and emerging adulthood | Journal of Diabetes and its Complications | 2016 | 450 | 1 | |||
Insulin secretion response during oral glucose tolerance test is related to low cardiorespiratory fitness in obese adolescents | Journal of pediatric endocrinology & metabolism | 2015 | 562 | 1 | |||
Diabetes and immune thrombocytopenic purpura: a new association with good response to anti-CD20 therapy | Pediatric diabetes | 2015 | 1,015 | 1 | |||
Transition en diabétologie | Revue médicale suisse | 2015 | 511 | 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 | 611 | 0 | |||
Gene Variants Associated with Transient Neonatal Diabetes Mellitus in the Very Low Birth Weight Infant | Hormone research in paediatrics | 2015 | 527 | 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 | 631 | 540 | |||
Many faces of monogenic diabetes | Journal of diabetes investigation | 2014 | 591 | 277 | |||
A novel SRY mutation leads to asymmetric SOX9 activation and is responsible for mixed 46,XY gonadal dysgenesis | Hormone research in paediatrics | 2012 | 598 | 0 | |||
Early metabolic defects in dexamethasone-exposed and undernourished intrauterine growth restricted rats | PloS one | 2012 | 678 | 353 | |||
Inflammatory and prothrombotic states in obese children of European descent | Obesity | 2012 | 500 | 0 | |||
Elevated E-selectin and diastolic blood pressure in diabetic children | European journal of clinical investigation | 2012 | 587 | 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 | 573 | 0 | |||
Encephalitis associated with glutamic acid decarboxylase autoantibodies in a child: a treatable condition? | Archives of neurology | 2011 | 606 | 0 | |||
Electrogastrography abnormalities appear early in children with diabetes type 1 | European journal of gastroenterology & hepatology | 2011 | 435 | 0 | |||
Aplasia cutis congenita in surviving co-twin after propylthiouracil exposure in utero | Journal of pediatric endocrinology & metabolism | 2011 | 526 | 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 | 581 | 0 | |||
Pancreas development in health and disease | 2010 | 544 | 11 | ||||
Modeling intrauterine growth retardation in rodents: Impact on pancreas development and glucose homeostasis | Molecular and cellular endocrinology | 2009 | 633 | 0 | |||
Perinatal exposure to bisphenol a alters early adipogenesis in the rat | Environmental health perspectives | 2009 | 561 | 0 | |||
Prenatal nicotine exposure and the programming of metabolic and cardiovascular disorders | Molecular and cellular endocrinology | 2009 | 604 | 1 | |||
Favoriser le passage de la pédiatrie aux structures de soins pour adultes des adolescents diabétiques | Soins | 2009 | 476 | 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 | 564 | 0 | |||
Diabète de type 2 en pédiatrie : diagnostic et prise en charge | Revue médicale suisse | 2007 | 378 | 0 | |||
Rôle de l'épigénétique dans le diabète et la croissance | Revue médicale suisse | 2007 | 367 | 2 | |||
L'enfant diabétique et les spécificités de son traitement insulinique | Revue médicale suisse | 2007 | 497 | 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 | 528 | 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 | 638 | 352 | |||
The zinc finger-containing transcription factor Gata-4 is expressed in the developing endocrine pancreas and activates glucagon gene expression | Molecular endocrinology | 2005 | 552 | 0 | |||
Traitement par hormone de croissance : phase de transition de l'enfance à l'âge adulte | Revue médicale suisse | 2005 | 481 | 0 | |||
Exercice physique et développement osseux de l'enfant malade chronique | Revue médicale de la Suisse romande | 2004 | 475 | 0 | |||
Diabète de type 2 : une nouvelle maladie pédiatrique | Médecine et hygiène | 2004 | 537 | 0 | |||
Agenesis of human pancreas due to decreased half-life of insulin promoter factor 1 | The Journal of clinical endocrinology and metabolism | 2003 | 578 | 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 | 488 | 0 | |||
Programming of the pancreas | Molecular and cellular endocrinology | 2001 | 448 | 0 | |||
Homeobox gene Nkx6.1 lies downstream of Nkx2.2 in the major pathway of beta-cell formation in the pancreas | Development | 2000 | 419 | 990 | |||
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 | 504 | 1 |