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10 research outputs found

Caudate glucose hypometabolism in a subject carrying an unstable allele of intermediate CAG 33

Author: ACMG/ASHG statement
Andrich
Groen
Herishanu
Kenney
Seong
Squitieri
Swami
Publication venue: 'Wiley'
Publication date
Field of study

Disorders of Unstable Repeat Sequences

Author: ACMG/ASHG statement
Aziz
Bean
Budworth
Chen
Ha
Holloway
Jama
Monaghan
Nachbauer
Nahhas
Nussbaum
Pandolfo
Scuffham
Semaka
Siwach
Swami
Publication venue: 'Elsevier BV'
Publication date: 01/01/2019
Field of study

Clinical and genetic characteristics of Mexican Huntington's disease patients

Author: ACMG/ASHG statement
Alonso
Alonso
Creigton
Gonzalez-Alegre
Harper
Kremer
Lipe
Paradisi
Paulsen
Rasmussen
Ribaï
Semaka
Squitieri
Squitieri
Publication venue: 'Wiley'
Publication date
Field of study

Huntington's disease: How intermediate are intermediate repeat lengths?

Author: ACMG/ASHG statement
Andrich
Biglan
Brocklebank
Dorsey
Gonitel
Groen
Ha
Hayden
Hendricks
Herishanu
Huntington's Disease Collaborative Research Group.
Kenney
Kurohara
Li
Maat-Kievit
Mangiarini
Oda
Pringsheim
Quarrell
Rubinsztein
Rubinsztein
Schöls
Semaka
Sequeiros
Squitieri
Squitieri
Squitieri
Swami
Warby
Wexler
Publication venue: 'Wiley'
Publication date
Field of study

Discrepancies in reporting the CAG repeat lengths for Huntington's disease

Author: ACMG/ASHG Statement
B Kremer
Christine Dumoulin
G Bernhard Landwehrmeyer
Huntington's Disease Collaborative Research Group
Ida Biunno
JP Warner
Kirsty O'Donovan
LC Williams
M Losekoot
M Losekoot
Margaret Kline
Maria Ramos-Arroyo
O Riess
Oliver W Quarrell
Olivia Handley
OW Quarrell
Peter Bauer
SA Miller
Publication venue: 'Springer Science and Business Media LLC'
Publication date
Field of study

Genetic counseling

Author: ACMG Board of Directors
ASHG Statement
Bennett
Bennett
Botkin
Brown
Chio
Crook
David
Goldman
Goldman
Green
Hercher
Hirschhorn
Hudson
International Huntington Association (IHA)
Kalia
Kang
Kearney
MacLeod
Miller
National Society of Genetic Counselors’ Definition Task Force
Orozco-Gutierrez
Quaid
Rehm
Reyes
Richards
Roberts
Roggenbuck
Ross
Schaefer
Sherman
Stewart
Stoll
Su
Uhlmann
Uhlmann
Uhlmann
Uhlmann
Uhlmann
Waggoner
Wagner
Walker
Publication venue: 'Elsevier BV'
Publication date: 01/01/2020
Field of study

Homozygosity in Huntington's disease: new ethical dilemma caused by molecular diagnosis

Haplotype analysis of the CAG and CCG repeats in 21 Brazilian families with Huntington’s disease

Genetic polymorphisms modulate the folate metabolism of Brazilian individuals with Down syndrome

ISUOG Practice Guidelines: invasive procedures for prenatal diagnosis

Author: Agarwal
Akolekar
Akolekar
Alfirevic
Alfirevic
American College of Obstetricians and Gynecologists
Antsaklis
Athanasiadis
Audibert
Basaran
Battagliarin
Berry
Bodner
Bombard
Borgida
Botto
Brambati
Brandenburg
Butwick
Cahill
Calda
Cambiaghi
Carlin
Cross
Cruz-Lemini
Dadelszen
Department of Obstetrics and Gynecology Tietung Hospital, Anshan, China
Donner
Ekoukou
Elchalal
Eller
Epley
Farrell
Ferrazzi
Gagnon
Giorlandino
Giorlandino
Gramellini
Grande
Grosheide
Harper
Henrion
Hess
Hobbins
Hockstein
Jackson
Jansen
Johnson
Kidd
Kähler
Lenis-Cordoba
Liao
Maiques
Mandelbrot
Marthin
Mastroiacovo
Maxwell
McFadyen
Millaire
Mujezinovic
Mujezinovic
Murray
Niazi
Nicolaidis
Nuss
O'Donoghue
Odibo
Okyay
Orlandi
Papp
Patel
Pergament
Philip
Pinette
Plachouras
Randomised trial to assess safety and fetal outcome of early and midtrimester amniocentesis
Royal College of Obstetricians & Gynaecologists
Sarto
Seeds
Sepúlveda
Shapiro
Simonazzi
Smidt-Jensen
Somigliana
Sotiriadis
Squier
Tabor
Tabor
Tabor
Tabor
Technical and clinical assessment of fluorescence in situ hybridization: an ACMG/ASHG position statement
Tess
Tongsong
Towers
Towner
Uludag
Wapner
Wapner
Weisz
Welch
Wilson
Wilson
Wulff
Yi
Young
Publication venue: 'Wiley'
Publication date
Field of study

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