Allyn McConkie-Rosel : rechercher sur Z-Library

McConkie-Rosell, Allyn, Spiridigliozzi, Gail A., Iafolla, Timothy, Tarleton, Jack, Lachiewicz, Ave M.

Année:

2018

Langue:

english

Fichier:

PDF, 575 KB

english, 2018

Carrier testing in the fragile X syndrome: Attitudes and opinions of obligate carriers

Journal:

American Journal of Medical Genetics

Année:

1997

Langue:

english

Fichier:

PDF, 151 KB

english, 1997

Prenatal diagnosis and carrier detection for glycogen storage disease type III using polymorphic DNA markers

Jianjun Shen, Hui-Ming Liu, Allyn McConkie-Rosell, Yuan-Tsong Chen

Journal:

Prenatal Diagnosis

Année:

1998

Langue:

english

Fichier:

PDF, 53 KB

english, 1998

Prenatal diagnosis of glycogen storage disease type IV using PCR-based DNA mutation analysis

Jianjun Shen, Hui-Ming Liu, Allyn McConkie-Rosell, Yuan-Tsong Chen

Journal:

Prenatal Diagnosis

Année:

1999

Langue:

english

Fichier:

PDF, 123 KB

english, 1999

Carrier testing in fragile X syndrome: Effect on self-concept

Allyn McConkie-Rosell, Gail A. Spiridigliozzi, Jennifer A. Sullivan, Deborah V. Dawson, Ave M. Lachiewicz

Journal:

Allyn McConkie-Rosell, Gail A. Spiridigliozzi, Jennifer A. Sullivan, Deborah V. Dawson, Ave M. Lachiewicz

Année:

2000

Langue:

english

Fichier:

PDF, 92 KB

english, 2000

Longitudinal study of the carrier testing process for fragile X syndrome: Perceptions and coping

Journal:

Allyn McConkie-Rosell, Gail A. Spiridigliozzi, Jennifer A. Sullivan, Deborah V. Dawson, Ave M. Lachiewicz

Année:

2001

Langue:

english

Fichier:

PDF, 116 KB

english, 2001

Carrier testing in fragile X syndrome: When to tell and test

Journal:

A. Kimberly Iafolla, Allyn McConkie-Rosell, Yuan Tsong Chen

Année:

2002

Langue:

english

Fichier:

PDF, 88 KB

english, 2002

VATER and hydrocephalus: Distinct syndrome?

Journal:

Johan L. K. Van Hove, Allyn McConkie-Rosell, Yuan-Tsong Chen, A. Kimberly Iafolla, Joseph T. Lanman Jr., Mark D. Hennessy, Stephen G. Kahler

Année:

1991

Langue:

english

Fichier:

PDF, 616 KB

english, 1991

Unbalanced translocation 46,xy,−15,+der(22)t(15;22)(q13;q11)pat: Case report and review of the literature

Journal:

Priya Kishnani, A. Kimberly Iafolla, Allyn McConkie-Rosell, Johan L. K. Van Hove, Ronald J. Kanter, Stephen G. Kahler

Année:

1992

Langue:

english

Fichier:

PDF, 651 KB

english, 1992

Hemangioma, supraumbilical midline raphé, and coarctation of the aorta with a right aortic arch: Single causal entity?

Journal:

Johan L. K. Van Hove, Gail A. Spiridigliozzi, Ralph Heinz, Allyn McConkie-Rosell, A. Kimberly Iafolla, Stephen G. Kahler

Année:

1995

Langue:

english

Fichier:

PDF, 624 KB

english, 1995

Fryns syndrome survivors and neurologic outcome

Journal:

Ave M. Lachiewicz, Deborah V. Dawson, Gail A. Spiridigliozzi, Allyn McConkie-Rosell

Année:

1995

Langue:

english

Fichier:

PDF, 756 KB

english, 1995

Arithmetic difficulties in females with the fragile X premutation

Journal:

Ramsey M. Wehbe, Gail A. Spiridigliozzi, Elizabeth M. Heise, Deborah V. Dawson, Allyn McConkie-Rosell

Année:

2006

Langue:

english

Fichier:

PDF, 126 KB

english, 2006

When to tell and test for genetic carrier status: Perspectives of adolescents and young adults from fragile X families

Journal:

Dr Hae K. Park, Helen H. Kay, Allyn McConkie-Rosell, Joe Lanman, Yuan-Tsong Chen

Année:

2009

Langue:

english

Fichier:

PDF, 127 KB

english, 2009

Prenatal diagnosis of Pompe's disease (type ii glycogenosis) in chorionic villus biopsy using maltose as a substrate

Journal:

Prenatal Diagnosis

Année:

1992

Langue:

english

Fichier:

PDF, 295 KB

english, 1992

Medium-chain acyl CoA dehydrogenase deficiency: Its relationship to SIDS and the impact on genetic counseling

Allyn McConkie-Rosell, A. Kimberly Iafolla

Journal:

Allyn McConkie-Rosell, Brenda Finucane, Amy Cronister, Liane Abrams, Robin L. Bennett, Barbara J. Pettersen

Année:

1993

Langue:

english

Fichier:

PDF, 600 KB

english, 1993

Genetic Counseling for Fragile X Syndrome: Updated Recommendations of the National Society of Genetic Counselors

Journal:

Année:

2005

Langue:

english

Fichier:

PDF, 379 KB

english, 2005

Recommendations from Multi-disciplinary Focus Groups on Cascade Testing and Genetic Counseling for Fragile X-associated Disorders

Allyn McConkie-Rosell, Liane Abrams, Brenda Finucane, Amy Cronister, Louise W. Gane, Sarah M. Coffey, Stephanie Sherman, Lawrence M. Nelson, Elizabeth Berry-Kravis, David Hessl, Sufen Chiu, Natalie St

Journal:

Allyn McConkie-Rosell, Jennifer A. Sullivan Saarela

Année:

2007

Langue:

english

Fichier:

PDF, 249 KB

english, 2007

Editorial: The JOGC Journey Continues

Journal:

Allyn McConkie-Rosell, Elizabeth Melvin Heise, Gail A. Spiridigliozzi

Année:

2008

Langue:

english

Fichier:

PDF, 39 KB

english, 2008

Genetic Risk Communication: Experiences of Adolescent Girls and Young Women from Families with Fragile X Syndrome

Journal:

Vandana Shashi, Matcheri Keshavan, Jessica Kaczorowski, Kelly Schoch, Kathryn E. Lewandowski, Allyn McConkie-Rosell, Stephen R. Hooper, Thomas R. Kwapil

Année:

2009

Langue:

english

Fichier:

PDF, 221 KB

english, 2009

Socioeconomic Status and Psychological Function in Children with Chromosome 22q11.2 Deletion Syndrome: Implications for Genetic Counseling

Journal:

Allyn McConkie-Rosell, Jacqueline Del Giorno, Elizabeth Melvin Heise

Année:

2010

Langue:

english

Fichier:

PDF, 183 KB

english, 2010

Communication of Genetic Risk Information to Daughters in Families with Fragile X Syndrome: The Parent’s Perspective

Journal:

Allyn McConkie-Rosell, Elizabeth Melvin Heise, Gail A. Spiridigliozzi

Année:

2011

Langue:

english

Fichier:

PDF, 191 KB

english, 2011

Influence of Genetic Risk Information on Parental Role Identity in Adolescent Girls and Young Women from Families with Fragile X Syndrome

Journal:

Deborah Eunpu, Robert Resta, Allyn McConkie-Rosell, Bonnie S. LeRoy

Année:

2012

Langue:

english

Fichier:

PDF, 194 KB

english, 2012

Celebrating the 20th Anniversary of theJournal of Genetic Counseling

Journal:

Allyn McConkie-Rosell, Brenda M. DeVellis

Année:

2012

Langue:

english

Fichier:

PDF, 70 KB

english, 2012

Threat to Parental Role: A Possible Mechanism of Altered Self-Concept Related to Carrier Knowledge

Journal:

Nathalie McIntosh, Louise W. Gane, Allyn McConkie-Rosell, Robin L. Bennett

Année:

2000

Langue:

english

Fichier:

PDF, 82 KB

english, 2000

Genetic Counseling for Fragile X Syndrome: Recommendations of the National Society of Genetic Counselors

Journal:

Année:

2000

Langue:

english

Fichier:

PDF, 78 KB

english, 2000

Editorial Introduction

Journal:

Année:

2002

Langue:

english

Fichier:

PDF, 13 KB

english, 2002

Instructions to Contributors

Allyn McConkie-Rosell

Journal:

Année:

2002

Langue:

english

Fichier:

PDF, 18 KB

english, 2002

Editorial

Journal:

Année:

2002

Langue:

english

Fichier:

PDF, 15 KB

english, 2002

Editorial Notes

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 14 KB

english, 2003

Genetic Counseling—Stress, Coping, and the Empowerment Perspective

Journal:

Année:

1999

Langue:

english

Fichier:

PDF, 787 KB

english, 1999

Editorial Notes

Journal:

Allyn McConkie-Rosell, Gail A. Spiridigliozzi

Année:

2004

Langue:

english

Fichier:

PDF, 20 KB

english, 2004

“Family Matters”: A Conceptual Framework for Genetic Testing in Children

Journal:

Michael D. Wittenberger, Randi J. Hagerman, Stephanie L. Sherman, Allyn McConkie-Rosell, Corrine K. Welt, Robert W. Rebar, Emily C. Corrigan, Joe Leigh Simpson, Lawrence M. Nelson

Année:

2004

Langue:

english

Fichier:

PDF, 75 KB

english, 2004

The FMR1 premutation and reproduction

Journal:

Fertility and Sterility

Année:

2007

Langue:

english

Fichier:

PDF, 238 KB

english, 2007

A Gene on Chromosome 11q23 Coding for a Putative Glucose- 6-Phosphate Translocase Is Mutated in Glycogen-Storage Disease Types Ib and Ic

Maria Veiga-da-Cunha, Isabelle Gerin, Yuan-Tsong Chen, Thierry de Barsy, Pascale de Lonlay, Carlo Dionisi-Vici, Christiane D. Fenske, Philip J. Lee, James V. Leonard, Irène Maire, Allyn McConkie-Rosel

Journal:

The American Journal of Human Genetics

Année:

1998

Langue:

english

Fichier:

PDF, 635 KB

english, 1998

Erratum to: Genetic Counseling and Testing forFMR1Gene Mutations: Practice Guidelines of the National Society of Genetic Counselors

Finucane, Brenda, Abrams, Liane, Cronister, Amy, Archibald, Alison D., Bennett, Robin L., McConkie-Rosell, Allyn

Journal:

Finucane, Brenda, Abrams, Liane, Cronister, Amy, Archibald, Alison D., Bennett, Robin L., McConkie-Rosell, Allyn

Année:

2012

Langue:

english

Fichier:

PDF, 47 KB

english, 2012

Genetic Counseling and Testing forFMR1Gene Mutations: Practice Guidelines of the National Society of Genetic Counselors

Journal:

Michael C. Brodsky, Edward G. Buckley, Allyn McConkie-Rosell

Année:

2012

Langue:

english

Fichier:

PDF, 188 KB

english, 2012

The case of the gray optic disc!

Journal:

Survey of Ophthalmology

Année:

1989

Langue:

english

Fichier:

PDF, 5.03 MB

english, 1989

The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders

Shashi, Vandana, McConkie-Rosell, Allyn, Rosell, Bruce, Schoch, Kelly, Vellore, Kasturi, McDonald, Marie, Jiang, Yong-Hui, Xie, Pingxing, Need, Anna, Goldstein, David B

Journal:

Tan, Queenie K.-G., McConkie-Rosell, Allyn, Juusola, Jane, Gustafson, Kathryn E, Pizoli, Carolyn E, Buckley, Anne F, Jiang, Yong-Hui

Année:

2014

Langue:

english

Fichier:

PDF, 425 KB

english, 2014

De novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial features

Tanaka, Akemi J., Cho, Megan T., Retterer, Kyle, Jones, Julie R., Nowak, Catherine, Douglas, Jessica, Jiang, Yong-Hui, McConkie-Rosell, Allyn, Schaefer, G. Bradley, Kaylor, Julie, Rahman, Omar A., Tel

Journal:

Molecular Case Studies

Année:

2016

Langue:

english

Fichier:

PDF, 1006 KB

english, 2016

The importance of managing the patient and not the gene: expanded phenotype of GLE1 -associated arthrogryposis

Journal:

Molecular Case Studies

Année:

2017

Langue:

english

Fichier:

PDF, 4.58 MB

english, 2017

Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases

Pena, Loren D M, Jiang, Yong-Hui, Schoch, Kelly, Spillmann, Rebecca C, Walley, Nicole, Stong, Nicholas, Rapisardo Horn, Sarah, Sullivan, Jennifer A, McConkie-Rosell, Allyn, Kansagra, Sujay, Smith, Edw

Journal:

Duffney, Lara J., Valdez, Purnima, Tremblay, Martine W., Cao, Xinyu, Montgomery, Sarah, McConkie-Rosell, Allyn, Jiang, Yong-hui

Année:

2017

Langue:

english

Fichier:

PDF, 821 KB

english, 2017

Epigenetics and autism spectrum disorder: A report of an autism case with mutation in H1 linker histone HIST1H1e and literature review

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Année:

2018

Langue:

english

Fichier:

PDF, 699 KB

english, 2018

Understanding Adult Participant and Parent Empowerment Prior to Evaluation in the Undiagnosed Diseases Network

Palmer, Christina G. S., McConkie-Rosell, Allyn, Holm, Ingrid A., LeBlanc, Kimberly, Sinsheimer, Janet S., Briere, Lauren C., Dorrani, Naghmeh, Herzog, Matthew R., Lincoln, Sharyn, Schoch, Kelly, Spil

Journal:

Année:

2018

Langue:

english

Fichier:

PDF, 499 KB

english, 2018

A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative

Shashi, Vandana, Schoch, Kelly, Spillmann, Rebecca, Cope, Heidi, Tan, Queenie K.-G., Walley, Nicole, Pena, Loren, McConkie-Rosell, Allyn, Jiang, Yong-Hui, Stong, Nicholas, Need, Anna C., Goldstein, Da

Journal:

BMC Health Services Research

Année:

2018

Langue:

english

Fichier:

PDF, 353 KB

english, 2018

Characteristics of undiagnosed diseases network applicants: implications for referring providers

Walley, Nicole M., Pena, Loren D. M., Hooper, Stephen R., Cope, Heidi, Jiang, Yong-Hui, McConkie-Rosell, Allyn, Sanders, Camilla, Schoch, Kelly, Spillmann, Rebecca C., Strong, Kimberly, McCray, Alexa

Journal:

Année:

2018

Langue:

english

Fichier:

PDF, 723 KB

english, 2018

Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses

Schoch, Kelly, Tan, Queenie K.-G., Stong, Nicholas, Deak, Kristen L., McConkie-Rosell, Allyn, McDonald, Marie T., Goldstein, David B., Jiang, Yong-hui, Shashi, Vandana

Journal: