Open AccessJournal Article
Genetics in medicine
TLDR
This site is one of the on-line library in which you can find your chosen one to read, which tends to be the book that will give you new inspirations.Abstract:
However, this era also allow you to get the book from many sources. The off line book store may be a common place to visit to get the book. But now, you can also find it in the on-line library. This site is one of the on-line library in which you can find your chosen one to read. Now, the presented genetics in medicine is a book that you can find here. This book tends to be the book that will give you new inspirations.read more
Citations
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Journal ArticleDOI
A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome)
Joseph Muenzer,James E. Wraith,Michael Beck,Roberto Giugliani,Paul Harmatz,Christine M. Eng,Ashok Vellodi,Rick A. Martin,Uma Ramaswami,Muge Gucsavas-Calikoglu,Suresh Vijayaraghavan,Susanne Wendt,Ana Cristina Puga,Brian Ulbrich,Marwan Shinawi,Maureen Cleary,Diane Piper,Anne Marie Conway,Alan Kimura +18 more
TL;DR: This study supports the use of weekly infusions of idursulfase in the treatment of mucopolysaccharidosis II and exhibited significant improvement in the composite endpoint compared to placebo after one year.
Journal ArticleDOI
Pompe disease diagnosis and management guideline
Priya S. Kishnani,Robert D. Steiner,Deeksha Bali,Kenneth I. Berger,Barry J. Byrne,Laura E. Case,John Crowley,Steven Downs,R. Rodney Howell,Richard M. Kravitz,Joanne Mackey,Deborah Marsden,Anna Maria Martins,David S. Millington,Marc Nicolino,Gwen O'Grady,Marc C. Patterson,David M. Rapoport,Alfred E. Slonim,Carolyn T. Spencer,Cynthia J. Tifft,Michael S. Watson +21 more
TL;DR: In determining the propriety of any specific procedure or test, the geneticist should apply his or her own professional judgment to the specific clinical circumstances presented by the individual patient or specimen.
Journal ArticleDOI
Loeys-Dietz syndrome: a primer for diagnosis and management
Gretchen MacCarrick,James H. Black,Sarah Bowdin,Ismail El-Hamamsy,Pamela A. Frischmeyer-Guerrerio,Anthony L. Guerrerio,Paul D. Sponseller,Bart Loeys,Harry C. Dietz +8 more
TL;DR: This review of literature and expert opinion aims to provide medical guidelines for care of individuals with Loeys–Dietz syndrome.
Journal ArticleDOI
Recommendations for returning genomic incidental findings? We need to talk!
Wylie Burke,Armand H. Matheny Antommaria,Robin L. Bennett,Jeffrey R. Botkin,Ellen Wright Clayton,Gail E. Henderson,Ingrid A. Holm,Gail P. Jarvik,Muin J. Khoury,Bartha Maria Knoppers,Nancy Press,Lainie Friedman Ross,Mark A. Rothstein,Howard M. Saal,Wendy R. Uhlmann,Benjamin S. Wilfond,Susan M. Wolf,Ron Zimmern +17 more
TL;DR: Recommendations for evaluating a specific set of genes as part of all whole-genome sequencing/whole-exome sequencing and reporting all pathogenic variants irrespective of patient age raise concerns and are inconsistent with established norms.
Journal ArticleDOI
Detection of aneuploidy for chromosomes 4, 6, 7, 8, 9, 10, 11, 12, 13, 17, 18, 21, X and Y by fluorescence in-situ hybridization in spermatozoa from nine patients with oligoasthenoteratozoospermia undergoing intracytoplasmic sperm injection
Myung-Geol Pang,S.F. Hoegerman,Anthony Cuticchia,S.Y. Moon,Gustavo F. Doncel,A.A. Acosta,William G. Kearns +6 more
TL;DR: The cytogenetic data show significantly elevated frequencies of diploidy, autosomal disomy and nullisomy, sex chromosome aneuploidsy, and total aneuPLoidy in OAT patients, which may contribute to the patients' infertility.
References
More filters
Journal ArticleDOI
A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome)
Joseph Muenzer,James E. Wraith,Michael Beck,Roberto Giugliani,Paul Harmatz,Christine M. Eng,Ashok Vellodi,Rick A. Martin,Uma Ramaswami,Muge Gucsavas-Calikoglu,Suresh Vijayaraghavan,Susanne Wendt,Ana Cristina Puga,Brian Ulbrich,Marwan Shinawi,Maureen Cleary,Diane Piper,Anne Marie Conway,Alan Kimura +18 more
TL;DR: This study supports the use of weekly infusions of idursulfase in the treatment of mucopolysaccharidosis II and exhibited significant improvement in the composite endpoint compared to placebo after one year.
Journal ArticleDOI
Pompe disease diagnosis and management guideline
Priya S. Kishnani,Robert D. Steiner,Deeksha Bali,Kenneth I. Berger,Barry J. Byrne,Laura E. Case,John Crowley,Steven Downs,R. Rodney Howell,Richard M. Kravitz,Joanne Mackey,Deborah Marsden,Anna Maria Martins,David S. Millington,Marc Nicolino,Gwen O'Grady,Marc C. Patterson,David M. Rapoport,Alfred E. Slonim,Carolyn T. Spencer,Cynthia J. Tifft,Michael S. Watson +21 more
TL;DR: In determining the propriety of any specific procedure or test, the geneticist should apply his or her own professional judgment to the specific clinical circumstances presented by the individual patient or specimen.
Journal ArticleDOI
Loeys-Dietz syndrome: a primer for diagnosis and management
Gretchen MacCarrick,James H. Black,Sarah Bowdin,Ismail El-Hamamsy,Pamela A. Frischmeyer-Guerrerio,Anthony L. Guerrerio,Paul D. Sponseller,Bart Loeys,Harry C. Dietz +8 more
TL;DR: This review of literature and expert opinion aims to provide medical guidelines for care of individuals with Loeys–Dietz syndrome.
Journal ArticleDOI
Recommendations for returning genomic incidental findings? We need to talk!
Wylie Burke,Armand H. Matheny Antommaria,Robin L. Bennett,Jeffrey R. Botkin,Ellen Wright Clayton,Gail E. Henderson,Ingrid A. Holm,Gail P. Jarvik,Muin J. Khoury,Bartha Maria Knoppers,Nancy Press,Lainie Friedman Ross,Mark A. Rothstein,Howard M. Saal,Wendy R. Uhlmann,Benjamin S. Wilfond,Susan M. Wolf,Ron Zimmern +17 more
TL;DR: Recommendations for evaluating a specific set of genes as part of all whole-genome sequencing/whole-exome sequencing and reporting all pathogenic variants irrespective of patient age raise concerns and are inconsistent with established norms.
Journal ArticleDOI
Detection of aneuploidy for chromosomes 4, 6, 7, 8, 9, 10, 11, 12, 13, 17, 18, 21, X and Y by fluorescence in-situ hybridization in spermatozoa from nine patients with oligoasthenoteratozoospermia undergoing intracytoplasmic sperm injection
Myung-Geol Pang,S.F. Hoegerman,Anthony Cuticchia,S.Y. Moon,Gustavo F. Doncel,A.A. Acosta,William G. Kearns +6 more
TL;DR: The cytogenetic data show significantly elevated frequencies of diploidy, autosomal disomy and nullisomy, sex chromosome aneuploidsy, and total aneuPLoidy in OAT patients, which may contribute to the patients' infertility.