Related references
Note: Only part of the references are listed.First systematic experience of preimplantation genetic diagnosis for single-gene disorders, and/or preimplantation human leukocyte antigen typing, combined with 24-chromosome aneuploidy testing
Svetlana Rechitsky et al.
FERTILITY AND STERILITY (2015)
Preimplantation genetic diagnosis for cystic fibrosis: the Montpellier center's 10-year experience
A. Girardet et al.
CLINICAL GENETICS (2015)
Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic)
Mireille Claustres et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2014)
ESHRE PGD Consortium data collection XII: cycles from January to December 2009 with pregnancy follow-up to October 2010
C. Moutou et al.
HUMAN REPRODUCTION (2014)
Is there evidence for correct diagnosis in cystic fibrosis registries?
Muriel Thomas et al.
JOURNAL OF CYSTIC FIBROSIS (2014)
Mechanisms of CFTR Functional Variants That Impair Regulated Bicarbonate Permeation and Increase Risk for Pancreatitis but Not for Cystic Fibrosis
Jessica LaRusch et al.
PLOS GENETICS (2014)
The experience of 3 years of external quality assessment of preimplantation genetic diagnosis for cystic fibrosis
Zandra Deans et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2013)
Cleavage-stage biopsy significantly impairs human embryonic implantation potential while blastocyst biopsy does not: a randomized and paired clinical trial
Richard T. Scott et al.
FERTILITY AND STERILITY (2013)
A Classification Model Relative to Splicing for Variants of Unknown Clinical Significance: Application to the CFTR Gene
Caroline Raynal et al.
HUMAN MUTATION (2013)
CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders
Christel Thauvin-Robinet et al.
JOURNAL OF MEDICAL GENETICS (2013)
Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene
Patrick R. Sosnay et al.
NATURE GENETICS (2013)
A Conservative Assessment of the Major Genetic Causes of Idiopathic Chronic Pancreatitis: Data from a Comprehensive Analysis of PRSS1, SPINK1, CTRC and CFTR Genes in 253 Young French Patients
Emmanuelle Masson et al.
PLOS ONE (2013)
Newborn screening for cystic fibrosis
Jeffrey S. Wagener et al.
CURRENT OPINION IN PEDIATRICS (2012)
Lessons learned from 20 years of newborn screening for cystic fibrosis
R. John H. Massie et al.
MEDICAL JOURNAL OF AUSTRALIA (2012)
Cystic Fibrosis Carrier Screening in Obstetric Clinical Practice: Knowledge, Practices, and Barriers, a Decade After Publication of Screening Guidelines
Diana Darcy et al.
GENETIC TESTING AND MOLECULAR BIOMARKERS (2011)
The dangers of including nonclassical cystic fibrosis variants in population-based screening panels: p.L997F, further genotype/phenotype correlation data
Charles M. Strom et al.
GENETICS IN MEDICINE (2011)
Mutation Nomenclature in Practice: Findings and Recommendations from the Cystic Fibrosis External Quality Assessment Scheme
Sarah Berwouts et al.
HUMAN MUTATION (2011)
ESHRE PGD consortium best practice guidelines for organization of a PGD centre for PGD/preimplantation genetic screening
G. Harton et al.
HUMAN REPRODUCTION (2011)
ESHRE PGD Consortium/Embryology Special Interest Group-best practice guidelines for polar body and embryo biopsy for preimplantation genetic diagnosis/screening (PGD/PGS)
G. L. Harton et al.
HUMAN REPRODUCTION (2011)
ESHRE PGD consortium best practice guidelines for amplification-based PGD
G. L. Harton et al.
HUMAN REPRODUCTION (2011)
An overview of international literature from cystic fibrosis registries. Part 3. Disease incidence, genotype/phenotype correlation, microbiology, pregnancy, clinical complications, lung transplantation, and miscellanea
Donatello Salvatore et al.
JOURNAL OF CYSTIC FIBROSIS (2011)
Recommendations for the classification of diseases as CFTR-related disorders
C. Bombieri et al.
JOURNAL OF CYSTIC FIBROSIS (2011)
Accreditation of the PGD laboratory
J. C. Harper et al.
HUMAN REPRODUCTION (2010)
Preimplantation genetic haplotyping: 127 diagnostic cycles demonstrating a robust, efficient alternative to direct mutation testing on single cells
Pamela Renwick et al.
REPRODUCTIVE BIOMEDICINE ONLINE (2010)
European best practice guidelines for cystic fibrosis neonatal screening
Carlo Castellani et al.
JOURNAL OF CYSTIC FIBROSIS (2009)
The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening
C. Thauvin-Robinet et al.
JOURNAL OF MEDICAL GENETICS (2009)
Cystic Fibrosis Foundation Practice Guidelines for the Management of Infants with Cystic Fibrosis Transmembrane Conductance Regulator-Related Metabolic Syndrome during the First Two Years of Life and Beyond
Drucy Borowitz et al.
JOURNAL OF PEDIATRICS (2009)
Clinical outcome of preimplantation genetic diagnosis for cystic fibrosis: the Brussels' experience
Kathelijn Keymolen et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2007)
Clinical application of multiple displacement amplification in preimplantation genetic diagnosis
A Hellani et al.
REPRODUCTIVE BIOMEDICINE ONLINE (2005)
Molecular pathology of the CFTR locus in male infertility
M Claustres
REPRODUCTIVE BIOMEDICINE ONLINE (2005)
ESHRE PGD Consortium 'best practice guidelines for clinical preimplantation genetic diagnosis (PGD) and preimplantation genetic screening (PGS)'
AR Thornhill et al.
HUMAN REPRODUCTION (2005)
Genotype-phenotype correlation and frequency of the 3199del6 cystic fibrosis mutation among I148T carriers: Results from a collaborative study
KG Monaghan et al.
GENETICS IN MEDICINE (2004)
Duplex, triplex and quadruplex PCR for the preimplantation genetic diagnosis (PGD) of cystic fibrosis (CF), an exhaustive approach
C Moutou et al.
PRENATAL DIAGNOSIS (2004)
Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign
JD Groman et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2004)
The minisequencing method: an alternative strategy for preimplantation genetic diagnosis of single gene disorders
F Fiorentino et al.
MOLECULAR HUMAN REPRODUCTION (2003)
Multiplex PCR of polymorphic markers flanking the CFTR gene;: a general approach for preimplantation genetic diagnosis of cystic fibrosis
JCFM Dreesen et al.
MOLECULAR HUMAN REPRODUCTION (2000)
Share Paper
