Andrea Superti‐Furga

1. Clinical and Genetic Features of Ehlers–Danlos Syndrome Type IV, the Vascular Type
   2000/03/09 by Melanie Pepin, Ulrike Schwarze, Andrea Superti‐Furga +1 · 16 citations
   Biochemistry, Genetics and Molecular Biology · Medicine · #Connective tissue disorders research #Cardiovascular Issues in Pregnancy #Bone fractures and treatments
2. DOMINO: Using Machine Learning to Predict Genes Associated with Dominant Disorders
   2017/10/01 by Mathieu Quinodoz, Beryl Royer-Bertrand, Béryl Royer‐Bertrand +5 · 28 citations
   Biochemistry, Genetics and Molecular Biology · #Artificial intelligence #Biochemistry #Biology #Computational biology #Computer science #Domino #Genetic Associations and Epidemiology #Genetics and Neurodevelopmental Disorders #Genomics and Rare Diseases #Machine learning
3. Mutations in ACY1, the Gene Encoding Aminoacylase 1, Cause a Novel Inborn Error of Metabolism
   2006/02/03 by Jörn Oliver Sass, Verena Mohr, Heike Olbrich +16 · 27 citations
   Biochemistry, Genetics and Molecular Biology · Medicine · #Amino acid #Biochemistry #Biology #Endocrinology #Gene #Genetics #Glycosylation and Glycoproteins Research #Inborn error of metabolism #Internal medicine #Isoleucine #Leucine #Medicine #Methionine #Missense mutation #Mutation #Peptidase Inhibition and Analysis #Ubiquitin and proteasome pathways #Valine
4. Ehlers-Danlos syndrome type IV: a multi-exon deletion in one of the two COL3A1 alleles affecting structure, stability, and processing of type III procollagen.
   1988/05/01 by Andrea Superti‐Furga, E Gugler, R Gitzelmann +1 · 3 citations
   Biochemistry, Genetics and Molecular Biology · Medicine · #Connective tissue disorders research #Dermatological and Skeletal Disorders #Dupuytren's Contracture and Treatments
5. Chondrodysplasia and Abnormal Joint Development Associated with Mutations in IMPAD1, Encoding the Golgi-Resident Nucleotide Phosphatase, gPAPP
   2011/05/01 by Lisenka E.L.M. Vissers, Lisenka E.L.M. Vissers, Ekkehart Lausch +21 · 2 citations
   Biochemistry, Genetics and Molecular Biology · #Alkaline phosphatase #Biochemical and Molecular Research #Biochemistry #Biology #Brachydactyly #Connective tissue disorders research #Endocrinology #Enzyme #Exome sequencing #Gene #Genetics #Hypophosphatasia #Missense mutation #Mutation #Short stature #Ubiquitin and proteasome pathways
6. Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator
   2021/02/10 by Lila Allou, Sara Balzano, Andreas Magg +30 · 2 citations
   Biochemistry, Genetics and Molecular Biology · #Biology #Cancer-related molecular mechanisms research #Congenital limb and hand anomalies #Exon #Gene #Genetics #Limb bud #Limb development #Locus (genetics) #Phenotype #RNA Research and Splicing
7. Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia
   2015/11/24 by Béryl Royer‐Bertrand, Silvia Castillo‐Taucher, Rodrigo Moreno-Salinas +12 · 2 citations
   Biochemistry, Genetics and Molecular Biology · #Endoplasmic Reticulum Stress and Disease #Lipid metabolism and biosynthesis #Skin and Cellular Biology Research
8. Different Organic Acid Patterns in Urine and in Cerebrospinal Fluid in a Patient with Biotinidase Deficiency
   1984/01/01 by M. Di Rocco, Andrea Superti‐Furga, A. Superti-Furga +6 · 1 citation
   Biochemistry, Genetics and Molecular Biology · Medicine · #Biotin and Related Studies #Myasthenia Gravis and Thymoma #Vitamin D Research Studies
9. Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene
   1996/01/01 by Andrea Superti‐Furga, Andrea Superti-Furga, Johanna Hästbacka +10 · 1 citation
   Biochemistry, Genetics and Molecular Biology · Medicine · #Bone health and treatments #Connective tissue disorders research #Proteoglycans and glycosaminoglycans research
10. Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity
    2011/01/09 by Ekkehart Lausch, Andreas Janecke, Matthias Bros +22 · 1 citation
    Biochemistry, Genetics and Molecular Biology · Immunology and Microbiology · Medicine · #Autoimmunity #Biology #Bone Metabolism and Diseases #Bone and Dental Protein Studies #Cancer research #Dysplasia #Endocrinology #Galectins and Cancer Biology #Genetics #Immune system #Immunology #Osteopontin #Pathogenesis
11. NANS-mediated synthesis of sialic acid is required for brain and skeletal development
    2016/05/23 by Clara van Karnebeek, Luisa Bonafé, Xiao‐Yan Wen +43 · 1 citation
    Biochemistry, Genetics and Molecular Biology · Nursing · #Glycosylation and Glycoproteins Research #Infant Nutrition and Health #RNA modifications and cancer
12. Maternal phenylketonuria syndrome in cousins caused by mild, unrecognized phenylketonuria in their mothers homozygous for the phenylalanine hydroxylase Arg-261-Gln mutation
    1991/05/01 by A. Superti-Furga, Andrea Superti‐Furga, B Steinmann +5 · 1 citation
    Biochemistry, Genetics and Molecular Biology · Medicine · #Amino Acid Enzymes and Metabolism #Folate and B Vitamins Research #Metabolism and Genetic Disorders
13. G to T transversion at position +5 of a splice donor site causes skipping of the preceding exon in the type III procollagen transcripts of a patient with Ehlers-Danlos syndrome type IV.
    1991/03/01 by B Lee, Emilia Vitale, Andrea Superti‐Furga +2 · 1 citation
    Biochemistry, Genetics and Molecular Biology · Medicine · #Connective tissue disorders research #Congenital limb and hand anomalies #Bone and Dental Protein Studies
14. TBX15 Mutations Cause Craniofacial Dysmorphism, Hypoplasia of Scapula and Pelvis, and Short Stature in Cousin Syndrome
    2008/11/01 by Ekkehart Lausch, Pia Hermanns, Henner F. Farin +12 · 1 citation
    Biochemistry, Genetics and Molecular Biology · Medicine · #Congenital Heart Disease Studies #Congenital heart defects research #Tracheal and airway disorders
15. Cortical-Bone Fragility — Insights from sFRP4 Deficiency in Pyle’s Disease
    2016/06/29 by Pelin Özlem Şimşek‐Kiper, Hiroaki Saito, Francesca Gori +21 · 1 citation
    Biochemistry, Genetics and Molecular Biology · #Wnt/β-catenin signaling in development and cancer #Connective tissue disorders research #TGF-β signaling in diseases
16. FAM111A Mutations Result in Hypoparathyroidism and Impaired Skeletal Development
    2013/05/16 by Sheila Unger, Maria W. Górna, Maria W. Górna +31 · 1 citation
    Biochemistry, Genetics and Molecular Biology · Medicine · #Cardiovascular Function and Risk Factors #Congenital heart defects research #Connective tissue disorders research
17. The Effect of the N-methyl-D-aspartate Receptor Antagonist Dextromethorphan on Perioperative Brain Injury in Children Undergoing Cardiac Surgery with Cardiopulmonary Bypass: Results of a Pilot Study
    1997/08/01 by Bernhard Schmitt, Urs Bauersfeld, Sergio Fanconi +11 · 1 citation
    Medicine · Neuroscience · #Anesthesia #Anesthesia and Neurotoxicity Research #Antagonist #Cardiac Ischemia and Reperfusion #Cardiac surgery #Cardiopulmonary bypass #Dextromethorphan #Intensive Care Unit Cognitive Disorders #Internal medicine #Medicine #Perioperative #Receptor #Receptor antagonist