Disease: Naegeli syndrome
- A new case of keratin 14 functional knockout causes severe recessive EBS and questions the haploinsufficiency model of Naegeli-Franceschetti-Jadassohn syndrome
- Acute reversible ataxo-myoclonic encephalopathy with flecainide therapy
- Benralizumab for severe DRESS in two COVID-19 patients
- Cardiac memory mimicking myocardial ischaemia
- Chromatin retention of DNA damage sensors DDB2 and XPC through loss of p97 segregase causes genotoxicity
- Diagnosis of hemophilia and von Willebrand-Jürgens syndrome. 3. Results of studies on patients with vWJS, heterozygotes of vWJS and patients with Glanzmann-Naegeli thrombasthenia
- Disorders of the lumbosacral and pubic plexus: origins, manifestations and approach
- Dual chamber single lead pacing
- Focal dermal hypoplasia with keratoconus, papillomatosis of esophagus and hidrocystomas (author's transl)
- Genodermatosis with reticulate, patchy and mottled pigmentation of the neck--a clue to rare dermatologic disorders
- Hyperpigmentation and hypohidrosis. (The Naegeli-Franceschetti-Jadassohn syndrome): report of a family and review of the literature
- Identification of a founder mutation in KRT14 associated with Naegeli-Franceschetti-Jadassohn syndrome
- Impact of a nationwide public campaign on delays and outcome in Swiss patients with acute coronary syndrome
- Incontinentia pigmenti, Franceschetti-Jadassohn's syndrome
- Incontinentio pigmenti (Naegeli's type) associated with frontonasal syndrome
- Inherited Reticulate Pigmentary Disorders
- Intravenous enoxaparin versus unfractionated heparin in unselected patients undergoing percutaneous coronary interventions: the Zurich enoxaparin versus unfractionated heparin in PCI study (ZEUS)
- KRT14 haploinsufficiency results in increased susceptibility of keratinocytes to TNF-alpha-induced apoptosis and causes Naegeli-Franceschetti-Jadassohn syndrome
- Long-term follow-up after left atrial appendage occlusion with comparison of transesophageal echocardiography versus computed tomography to guide medical therapy and data about postclosure cardioversion
- Metabolomic biomarkers correlating with hepatic lipidosis in dairy cows
- Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: intrafamilial overlap of phenotypes in patients with the same KRT14 frameshift variant
- Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14
- Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis. Two allelic ectodermal dysplasias related to mutations of dominant gene coding for keratin 14
- Naegeli-Franceschetti-Jadassohn syndrome in a Saudi Arabian family
- Naegeli-Franceschetti-Jadassohn syndrome: A rare case
- Naegeli-Franceschetti-Jadassohn Syndrome: A Rare Reticulate Pigmentary Disorder
- Natural history of the Naegeli-Franceschetti-Jadassohn syndrome
- Natural history of the Naegeli-Franceschetti-Jadassohn syndrome and further delineation of its clinical manifestations
- Obstetrical problems in patients with Glanzmann's thrombasthenia. A casuistic presentation (author's transl)
- On a case of hemorrhagic syndrome in an infant caused by functional changes in the blood platelets (Naegeli's thrombopathy)
- Outcome of elderly patients with chronic symptomatic coronary artery disease with an invasive vs optimized medical treatment strategy: one-year results of the randomized TIME trial
- Patient burden of Sjögren's: a comprehensive literature review revealing the range and heterogeneity of measures used in assessments of severity
- Pregnancy and delivery in familial Glanzmann-Naegeli disease
- Prenatal and postnatal growth retardation, microcephaly, developmental delay, and pigmentation abnormalities: Naegeli syndrome, dyskeratosis congenita, poikiloderma Clericuzio type, or separate entity?
- Proinflammatory cytokines in acute myocardial infarction with and without cardiogenic shock
- Refined mapping of Naegeli-Franceschetti- Jadassohn syndrome to a 6 cM interval on chromosome 17q11.2-q21 and investigation of candidate genes
- Reticular pigmented genodermatosis with milia--a special form of Naegeli-Franceschetti-Jadassohn syndrome or a new entity?
- Reticulate hyperpigmentation
- Reticulate pigmentary dermatosis associated with hypohydrosis and short stature: a variant of Naegeli-Franceschetti-Jadassohn syndrome?
- SARS-CoV-2, COVID-19, skin and immunology - What do we know so far?
- Segmental forms of autosomal dominant skin disorders: the puzzle of mosaicism
- Single-chamber ventricular pacing increases markers of left ventricular dysfunction compared with dual-chamber pacing
- Spontaneous fading of reticular pigmentation in Naegeli-Franceschetti-Jadassohn syndrome
- The gene for Naegeli-Franceschetti-Jadassohn syndrome maps to 17q21
- The xeroderma pigmentosum pathway: decision tree analysis of DNA quality
- Thrombopathic hemorrhagic syndrome of the Naegeli type (with special reference to capilaroscopic findings)