A. Superti-Furga

Discipline

Anthropologie biologique (6) Psychologie (5) Sociologie (1) Littératures (1) Education (1)

Type de document

Articles (63) Recensions (9)

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Source

Mot-clé

Human beings (41) gène (36) Patients (30) Patients (30) mutation (25) Mutation (25) analyse (24) Analysis (24) Phenotype (22) Families (22) maladie (21) maladie (21) protéine (19) Genes (18) roman (17) Bone (16) adulte (15) adulte (15) enfant (14) Dysplasia (14) ADN (13) Development (13) Treatment (13) Cases (13) DNA (13) Cases (13) Disabilities (12) Diagnosis (11) Defects (11) Diagnosis (11)

Documents écrit par A. Superti-Furga (63) | parle de A. Superti-Furga (0)

Identification of potential non-invasive biomarkers in diastrophic dysplasia.
C. Paganini et al.
Prise en charge des maladies rénales génétiques : expérience locale et importance du réseau [Management of genetic renal disorders: local experience and importance of the network]
O. Bonny et al. (21 juin 2023)
Nosology of genetic skeletal disorders: 2023 revision.
S. Unger et al.
Biotinidase deficiency: What have we learned in forty years?
A.T. Tankeu et al.
Overweight and obesity in adult patients with phenylketonuria: a systematic review.
A.T. Tankeu et al. (22 févr. 2023)
The «Amish» NM_000256.3:c.3330+2T>G splice variant in MYBPC3 associated with hypertrophic cardiomyopathy is an ancient Swiss mutation.
C. Redin et al.
Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity.
M. Quinodoz et al. (3 mars 2022)
Partial lipodystrophy, severe dyslipidaemia and insulin resistant diabetes as early signs of Werner syndrome.
I. Atallah et al. (2022)
Clinical and Genetic Findings in a Series of Eight Families with Arthrogryposis.
M. Pollazzon et al. (23 déc. 2021)
De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures.
B. Royer-Bertrand et al. (26 oct. 2021)
Correction to: Elevated lactate in Mauriac syndrome: still a mystery.
B. Touilloux et al. (30 sept. 2021)
Agenesis of the Corpus Callosum with Facial Dysmorphism and Intellectual Disability in Sibs Associated with Compound Heterozygous KDM5B Variants.
S. Lebon et al. (10 sept. 2021)
Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3-a subgroup of K+ channelopathies.
K.W. Gripp et al.
CNOT2 haploinsufficiency in a 40-year-old man with intellectual disability, autism, and seizures.
B. Royer-Bertrand et al.
Classical homocystinuria, is it safe to exercise?
B. Campos-Xavier et al.
NGS-Based Diagnosis of Treatable Neurogenetic Disorders in Adults: Opportunities and Challenges.
J.M. Good et al. (6 mai 2021)
AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data.
M. Quinodoz et al. (22 janv. 2021)
Case Report: A Rare Truncating Variant of the CFHR5 Gene in IgA Nephropathy.
G. Guzzo et al. (2021)
Nouveautés dans le traitement des malformations veineuses complexes : le laser endoveineux [Advances in the treatment of complex venous malformation: endovenous laser]
M. Fresa et al. (9 déc. 2020)
Clouds over IMD? Perspectives for inherited metabolic diseases in adults from a retrospective cohort study in two Swiss adult metabolic clinics.
K. Gariani et al. (18 août 2020)
Dysfonction sinusale, syndrome de Brugada et syndrome du QT long chez un même patient - Quand la génétique y perd son latin [Sinus node dysfunction, Brugada syndrome and long QT syndrome affecting the same patient : when genetics can't make head or tail of it]
A.P. Porretta et al. (3 juin 2020)
Clinical aspects of Hyaline Fibromatosis Syndrome and identification of a novel mutation.
B. Härter et al.
Skeletal Dysplasias Caused by Sulfation Defects.
C. Paganini et al. (14 avr. 2020)
The Connective Tissue Disorder Associated with Recessive Variants in the SLC39A13 Zinc Transporter Gene (Spondylo-Dysplastic Ehlers-Danlos Syndrome Type 3): Insights from Four Novel Patients and Follow-Up on Two Original Cases.
C. Kumps et al. (14 avr. 2020)
CSGALNACT1-congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age.
S. Mizumoto et al.

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