Epidemiology of achondroplasia: a population-based study in Europe

Epidemiology of achondroplasia: a population-based study in Europe

Achondroplasia is a rare genetic disorder resulting in short-limb skeletal dysplasia. We present the largest European population-based epidemiological study to date using data provided by the European Surveillance of Congenital Anomalies (EUROCAT) network. All cases of achondroplasia notified to twe...

Deskribapen osoa

Xehetasun bibliografikoak
Egile Nagusiak:	Coi, A, Santoro, M, Garne, E, Pierini, A, Addor, M, Alessandri, J, Bergman, J, Bianchi, F, Boban, L, Braz, P, Cavero-Carbonell, C, Gatt, M, Haeusler, M, Klungsøyr, K, Kurinczuk, J, Lanzoni, M, Lelong, N, Luyt, K, Mokoroa, O, Mullaney, C, Nelen, V, Neville, A, O'Mahony, M, Perthus, I, Rankin, J, Rissmann, A, Rouget, F, Schaub, B, Tucker, D, Wellesley, D, Wisniewska, K, Zymak-Zakutnia, N, Barišić, I
Formatua:	Journal article
Hizkuntza:	English
Argitaratua:	Wiley 2019

Antzeko izenburuak

Epidemiology of septo-optic dysplasia with focus on prevalence and maternal age – A EUROCAT study
nork: Garne, E, et al.
Argitaratua: (2018)

Epidemiology of congenital cerebral anomalies in Europe: a multicentre, population-based EUROCAT study
nork: Morris, JK, et al.
Argitaratua: (2019)

Epidemiology of aplasia cutis congenita: a population-based study in Europe
nork: Coi, A, et al.
Argitaratua: (2022)

Spectrum of congenital anomalies among VACTERL cases: a EUROCAT population-based study
nork: van de Putte, R, et al.
Argitaratua: (2019)

Maternal risk factors for the VACTERL association: A EUROCAT case-control study
nork: van de Putte, R, et al.
Argitaratua: (2020)

THE APPLICATION OF MOLECULAR GENETIC TECHNIQUES TO THE STUDY OF ACHONDROPLASIA
nork: Wordsworth, B, et al.
Argitaratua: (1986)

GENETIC-LINKAGE STUDIES OF THE TYPE-II COLLAGEN GENE AND ACHONDROPLASIA
nork: Wordsworth, B, et al.
Argitaratua: (1986)

Prevalence of microcephaly in Europe : a population based study
nork: Morris, J, et al.
Argitaratua: (2016)

Trends in congenital anomalies in Europe from 1980 to 2012
nork: Morris, J, et al.
Argitaratua: (2018)

Human chromosome 4 sequencing and single nucleotide polymorphism (SNP) analysis of an achondroplasia individual.
nork: Lee, Ling Sze
Argitaratua: (2011)

Human Chromosome 4 Sequencing And Stngle Nucleotide Polymorphism (SNP) Analysis Of An Achondroplasia Individual
nork: Lee , Ling Sze
Argitaratua: (2011)

Human Chromosome 4 Sequencing And Single Nucleotide Polymorphism (Snp) Analysis Of An Achondroplasia Individual
nork: Lee , Ling Sze
Argitaratua: (2011)

GENETIC-LINKAGE STUDIES OF THE TYPE-II COLLAGEN GENE (COL 2AI) AND ACHONDROPLASIA
nork: Wordsworth, B, et al.
Argitaratua: (1985)

Evidence against the structural gene encoding type II collagen (COL2A1) as the mutant locus in achondroplasia.
nork: Ogilvie, D, et al.
Argitaratua: (1986)

Use of hierarchical models to analyse European trends in congenital anomaly prevalence
nork: Cavadino, A, et al.
Argitaratua: (2016)

Rain events and recharge processes in the San Luis Valley of Southern Colorado
nork: Lanzoni, M
Argitaratua: (2019)

Plurisubharmonic functions and positive differential forms/
nork: 361659 Lelong, Pierre
Argitaratua: (1969)

Salt Production in Central Italy and Social Network Analysis Centrality Measures: An Exploratory Approach
nork: Fulminante, F, et al.
Argitaratua: (2024)

Direct taxation and state–society relations in Lagos, Nigeria
nork: Gatt, L, et al.
Argitaratua: (2018)

Rainfall and groundwater use in rural Kenya
nork: Thomson, P, et al.
Argitaratua: (2018)

GALICS -- VI. Modelling Hierarchical Galaxy Formation in Clusters
nork: Lanzoni, B, et al.
Argitaratua: (2005)

Operando ultrasonic monitoring of the internal temperature of lithium-ion batteries for the detection and prevention of thermal runaway
nork: Owen, RE, et al.
Argitaratua: (2024)

‘Failed supraglottic airway’: an algorithm for suboptimally placed supraglottic airway devices based on videolaryngoscopy
nork: Van Zundert, A, et al.
Argitaratua: (2017)

Evaluation of Probabilistic Quality and Value of the ENSEMBLES Multimodel Seasonal Forecasts: Comparison with DEMETER
nork: Alessandri, A, et al.
Argitaratua: (2011)

A novel motion sensor-driven control system for FES-assisted walking after spinal cord injury: A pilot study
nork: Braz, Gustavo P., et al.
Argitaratua: (2016)

Effect of a statewide fall prevention program on incidence of femoral fractures in residents of long-term care facilities.
nork: Rapp, K, et al.
Argitaratua: (2010)

Profiling DNA damage in 3D histology samples
nork: delas Peñas, KE, et al.
Argitaratua: (2022)

The arrhythmogenic cardiotoxicity of the quinoline and structurally related antimalarial drugs: a systematic review
nork: Haeusler, I, et al.
Argitaratua: (2018)

Grand European and Asian-Pacific multi-model seasonal forecasts: maximization of skill and of potential economical value to end-users
nork: Alessandri, A, et al.
Argitaratua: (2017)

Microfabrication of Optically Flat Silicon Micro-Mirrors for Fully Programmable Micro-Diffraction Gratings
nork: Timotijevic, B., et al.
Argitaratua: (2014)

Juvenile myasthenia gravis associated with autoimmune channelopathy and mixed connective tissue disease
nork: Bunoza, B, et al.
Argitaratua: (2012)

ENSEMBLES: A new multi-model ensemble for seasonal-to-annual predictions-Skill and progress beyond DEMETER in forecasting tropical Pacific SSTs
nork: Weisheimer, A, et al.
Argitaratua: (2009)

The case for a 3rd generation supraglottic airway device facilitating direct vision placement
nork: Van Zundert, AAJ, et al.
Argitaratua: (2020)

Mechanical metamaterials with star-shaped pores exhibiting negative and zero Poisson's ratio
nork: Mizzi, L, et al.
Argitaratua: (2018)

Optimal purification of a spin ensemble by quantum-algorithmic feedback
nork: Jackson, DM, et al.
Argitaratua: (2022)

Threshold constraints on the size, shape and stability of alluvial rivers
nork: Phillips, CB, et al.
Argitaratua: (2022)

The rate of quasiparticle recombination probes the onset of coherence in cuprate superconductors
nork: Hinton, J. P., et al.
Argitaratua: (2016)

Morphological and functional properties distinguish the substance P and gastrin-releasing peptide subsets of excitatory interneuron in the spinal cord dorsal horn
nork: Dickie, AC, et al.
Argitaratua: (2018)

Large-scale randomized prostate cancer screening trials: program performances in the European Randomized Screening for Prostate Cancer trial and the Prostate, Lung, Colorectal and Ovary cancer trial.
nork: de Koning, H, et al.
Argitaratua: (2002)

Development of a European multimodel ensemble system for seasonal-to-interannual prediction (DEMETER)
nork: Palmer, T, et al.
Argitaratua: (2004)