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April 2018 - Volume 55 - 4
Position statement
Diagnostics
Cancer genetics
Biochemical genetics
Screening
Genome-wide studies
Novel disease loci
Ethics and Policy
Electronic pages
Position statement
Practice guideline: joint CCMG-SOGC recommendations for the use of chromosomal microarray analysis for prenatal diagnosis and assessment of fetal loss in Canada
(22 March, 2018)
Christine M
Armour
,
Shelley Danielle
Dougan
,
Jo-Ann
Brock
,
Radha
Chari
,
Bernie N
Chodirker
,
Isabelle
DeBie
,
Jane A
Evans
,
William T
Gibson
,
Elena
Kolomietz
,
Tanya N
Nelson
,
Frédérique
Tihy
,
Mary Ann
Thomas
,
Dimitri J
Stavropoulos
Diagnostics
Review: Genetic tests in lymphatic vascular malformations and lymphedema
(22 March, 2018)
Sandro
Michelini
,
Stefano
Paolacci
,
Elena
Manara
,
Costantino
Eretta
,
Raul
Mattassi
,
Byung-Boong
Lee
,
Matteo
Bertelli
Original Article: Catalogue of inherited disorders found among the Irish Traveller population
(22 March, 2018)
Sally Ann
Lynch
,
Ellen
Crushell
,
Deborah M
Lambert
,
Niall
Byrne
,
Kathleen
Gorman
,
Mary D
King
,
Andrew
Green
,
Siobhan
O’Sullivan
,
Fiona
Browne
,
Joanne
Hughes
,
Ina
Knerr
,
Ahmad A
Monavari
,
Melanie
Cotter
,
Vivienne P M
McConnell
,
Bronwyn
Kerr
,
Simon A
Jones
,
Catriona
Keenan
,
Nuala
Murphy
,
Declan
Cody
,
Sean
Ennis
,
Jackie
Turner
,
Alan D
Irvine
,
Jillian
Casey
Cancer genetics
Original Article: Comprehensive analysis of the
MLH1
promoter region in 480 patients with colorectal cancer and 1150 controls reveals new variants including one with a heritable constitutional
MLH1
epimutation
(22 March, 2018)
Free
Monika
Morak
,
Ayseguel
Ibisler
,
Gisela
Keller
,
Ellen
Jessen
,
Andreas
Laner
,
Daniela
Gonzales-Fassrainer
,
Melanie
Locher
,
Trisari
Massdorf
,
Anke M
Nissen
,
Anna
Benet-Pagès
,
Elke
Holinski-Feder
Biochemical genetics
Short Report: Heterogeneous clinical spectrum of DNAJC12-deficient hyperphenylalaninemia: from attention deficit to severe dystonia and intellectual disability
(22 March, 2018)
Francjan J
van Spronsen
,
Nastassja
Himmelreich
,
Véronique
Rüfenacht
,
Nan
Shen
,
Danique van
Vliet
,
Mohammed
Al-Owain
,
Khushnooda
Ramzan
,
Salwa M
Alkhalifi
,
Roelineke J
Lunsing
,
Rebecca M
Heiner-Fokkema
,
Anahita
Rassi
,
Corinne
Gemperle-Britschgi
,
Georg F
Hoffmann
,
Nenad
Blau
,
Beat
Thöny
Screening
Original Article: Risk category system to identify pituitary adenoma patients with
AIP
mutations
(22 March, 2018)
Francisca
Caimari
,
Laura Cristina
Hernández-Ramírez
,
Mary N
Dang
,
Plamena
Gabrovska
,
Donato
Iacovazzo
,
Karen
Stals
,
Sian
Ellard
,
Márta
Korbonits
Original Article: Fabry Disease: prevalence of affected males and heterozygotes with pathogenic
GLA
mutations identified by screening renal, cardiac and stroke clinics, 1995–2017
(22 March, 2018)
Dana
Doheny
,
Ram
Srinivasan
,
Silvere
Pagant
,
Brenden
Chen
,
Makiko
Yasuda
,
Robert J
Desnick
Genome-wide studies
Original Article: Chromothripsis and ring chromosome 22: a paradigm of genomic complexity in the Phelan-McDermid syndrome (22q13 deletion syndrome)
(22 March, 2018)
Nehir
Kurtas
,
Filippo
Arrigoni
,
Edoardo
Errichiello
,
Claudio
Zucca
,
Cristina
Maghini
,
Maria Grazia
D’Angelo
,
Silvana
Beri
,
Roberto
Giorda
,
Sara
Bertuzzo
,
Massimo
Delledonne
,
Luciano
Xumerle
,
Marzia
Rossato
,
Orsetta
Zuffardi
,
Maria Clara
Bonaglia
Novel disease loci
Original Article:
FAM46A
mutations are responsible for autosomal recessive osteogenesis imperfecta
(22 March, 2018)
Mathilde
Doyard
,
Séverine
Bacrot
,
Céline
Huber
,
Maja
Di Rocco
,
Alice
Goldenberg
,
Mona S
Aglan
,
Perrine
Brunelle
,
Samia
Temtamy
,
Caroline
Michot
,
Ghada A
Otaify
,
Coralie
Haudry
,
Mireille
Castanet
,
Julien
Leroux
,
Jean-Paul
Bonnefont
,
Arnold
Munnich
,
Geneviève
Baujat
,
Pablo
Lapunzina
,
Sophie
Monnot
,
Victor L
Ruiz-Perez
,
Valérie
Cormier-Daire
Ethics and Policy
Commentary: Disclosure of genetic information to relatives: balancing confidentiality and relatives’ interests
(22 March, 2018)
Anneke
Lucassen
,
Roy
Gilbar
Electronic pages
2017 Thank you to our reviewers
(22 March, 2018)
Issue Information
Table of Contents (PDF)
Front Cover
Front Matter (PDF)