Works matching DE "GENETIC disorders"

Results: 5000

How is cerebral palsy different from other childhood neurological disorders?

Published in:

2023

By:

Cabezas-López, Mercedes

Publication type:

Journal Article

Factor analysis of the Stigma Scale—Parent version in pediatric disorders/differences of sex development.

Published in:

2021

By:

Traino, Katherine A.;
Baudino, Marissa N.;
Kraft, Jacob D.;
Basile, Nathan L.;
Dattilo, Taylor M.;
Davis, Morgan P.;
Buchanan, Cindy;
Cheng, Earl Y.;
Poppas, Dix P.;
Wisniewski, Amy B.;
Mullins, Larry L.

Publication type:

Journal Article

A review of psychological, social, and behavioral functions in the RASopathies.

Published in:

2020

By:

Walsh, Karin S.;
del Castillo, A.;
Kennedy, T.;
Karim, A. I.;
Semerjian, C.

Publication type:

Journal Article

Autistic traits and cognitive abilities associated with two molecular causes of Silver-Russell syndrome.

Published in:

2020

By:

Lane, Chloe;
Robinson, Louisa;
Freeth, Megan

Publication type:

Journal Article

Neuropsychological functioning in individuals with Noonan syndrome: A systematic literature review with educational and treatment recommendations.

Published in:

2016

By:

Pierpont, Elizabeth I.

Publication type:

Journal Article

Offspring of a parent with genetic disease: Childhood experiences and adult psychological characteristics.

Published in:

2014

By:

van der Meer, Lucienne;
van Duijn, Erik;
Wolterbeek, Ron;
Tibben, Aad

Publication type:

Journal Article

Impaired acuity of the approximate number system in 22q11.2 microdeletion syndrome.

Published in:

2014

By:

Oliveira, Lívia F. S.;
Santos, Amanda O.;
Vianna, Gabrielle S.;
Di Ninno, Camila Q. M. S.;
Giacheti, Célia M.;
Carvalho, Maria R. S.;
Wood, Guilherme;
Pinheiro-Chagas, Pedro;
Haase, Vitor G.

Publication type:

Journal Article

The importance of considering all attributes of memory in behavioral endophenotyping of mouse models of genetic disease.

Published in:

2012

By:

Hunsaker, Michael R.

Publication type:

Journal Article

Alerting the general population to genetic risks: The value of health messages communicating the existence of genetic risk factors for public health promotion.

Published in:

2009

By:

Smerecnik, Chris M. R.;
Mesters, Ilse;
de Vries, Nanne K.;
de Vries, Hein

Publication type:

Journal Article

Disclosure of positive BRCA1/2-mutation status in young couples: The journey from uncertainty to bonding through partner support.

Published in:

2008

By:

Hoskins, Lindsey M.;
Roy, Kevin;
Peters, June A.;
Loud, Jennifer T.;
Greene, Mark H.

Publication type:

Journal Article

Psychoeducational implications of neurodevelopmental genetic disorders.

Published in:

2008

By:

Davis, Andrew S.;
Phelps, LeAdelle

Publication type:

Journal Article

Encoding and retrieval processes in velo-cardio-facial syndrome (VCFS).

Published in:

2008

By:

Debbané, Martin;
Glaser, Bronwyn;
Eliez, Stephan

Publication type:

Journal Article

Behavior in children with a chronic illness: A descriptive study of child characteristics, family adjustment, and school issues in children with cystinosis.

Published in:

2007

By:

Spilkin, Amy;
Ballantyne, Angela

Publication type:

Journal Article

Genetics, family systems, and multicultural influences.

Published in:

2006

By:

Rolland, John S.

Publication type:

Journal Article

Decision making and decision support for hereditary breast-ovarian cancer susceptibility.

Published in:

2005

By:

Schwartz, Marc D.;
Peshkin, Beth N.;
Tercyak, Kenneth P.;
Taylor, Kathryn L.;
Valdimarsdottir, Heiddis

Publication type:

Journal Article

Children's Understanding of the Transmission of Genetic Disorders and Contagious Illnesses.

Published in:

2005

By:

Raman, Lakshmi;
Gelman, Susan A.

Publication type:

Journal Article

Reading and Phonological Awareness in Williams Syndrome.

Published in:

2004

By:

Menghini, Deny;
Verucci, Lorena;
Vicari, Stefano

Publication type:

Journal Article

Review of My journey with Jake: A memoir of parenting and disability.

Published in:

2001

By:

Minnes, Patricia

Publication type:

Review-Book

What family psychology has to offer women's health: The examples of conversion, somatization, infertility treatment, and genetic testing.

Published in:

2001

By:

McDaniel, Susan H.;
Speice, Jenny

Publication type:

Journal Article

Distress and psychiatric morbidity among women from high-risk breast and ovarian cancer families.

Published in:

2000

By:

Coyne, James C.;
Benazon, Nili R.;
Gaba, Collette Glynn;
Calzone, Kathleen;
Weber, Barbara L.

Publication type:

Journal Article

Families and genetic fate: A millennial challenge.

Published in:

1999

By:

Rolland, John S.

Publication type:

Comment/Reply

Moral direction in genetic counseling: Prenatal testing and Huntington's disease.

Published in:

1999

By:

Stone, Howard W.;
Miles, Rebekah

Publication type:

Journal Article

Predictive genetic testing: A story of one family.

Published in:

1999

By:

Taswell, Howard F.;
Sholtes, Susan K.

Publication type:

Journal Article

The genetic self: The Human Genome Project, genetic counseling and family therapy.

Published in:

1999

By:

Peters, June A.;
Djurdjinovic, Luba;
Baker, Diane

Publication type:

Journal Article

Memory functions in children with early hydrocephalus.

Published in:

1998

By:

Scott, Mary Ann;
Fletcher, Jack M.;
Brookshire, Bonnie L.;
Davidson, Kevin C.;
Landry, Susan H.;
Bohan, Timothy C.;
Kramer, Larry A.;
Brandt, Michael E.;
Francis, David J.

Publication type:

Journal Article

A conceptual framework for the psychosocial issues faced by families with genetic conditions.

Published in:

1998

By:

Street, Eddy;
Soldan, Jo

Publication type:

Journal Article

Chronic and disabling conditions among American Indian and Alaskan Native children and youth.

Published in:

1997

By:

Brenneman, George

Publication type:

Journal Article

The influence of psychological distress on use of genetic testing for cancer risk.

Published in:

1997

By:

Lerman, Caryn;
Schwartz, Marc D.;
Lin, Ting Hsiang;
Hughes, Chanita;
Narod, Steven;
Lynch, Henry T.

Publication type:

Journal Article

A narrative approach to understanding the illness experiences of a mother and daughter.

Published in:

1997

By:

Weingarten, Kathy;
Weingarten Worthen, Miranda Eve

Publication type:

Journal Article

Correlates of psychologic distress in colorectal cancer patients undergoing genetic testing for hereditary colon cancer.

Published in:

1997, isbn. 1-55798-418-2

By:

Vernon, Sally W.;
Gritz, Ellen R.;
Peterson, Susan K.;
Amos, Christopher I.;
Perz, Catherine A.;
Baile, Walter F.;
Lynch, Patrick M.

Publication type:

Journal Article

Medical conditions in Ashkenazi schizophrenic pedigrees.

Published in:

1994

By:

Goodman, Ann B.

Publication type:

Journal Article

Ontogeny of hyperactivity and circling behavior in a transgenic insertional mutant mouse.

Published in:

1991

By:

Fitzgerald, Lawrence W.;
Ratty, Anil K.;
Miller, Keith J.;
Ellsworth, Mary K.;
Glick, Stanley D.;
Gross, Kenneth W.

Publication type:

Journal Article

Review of Psychologie génétique et sciences cognitives.

Published in:

1992

By:

Markovtts, Henry

Publication type:

Review-Book

Why not to screen high-risk women anticipating BRCA1/BRCA2 testing for psychological distress.

Published in:

2002

By:

Benazon, Nili R.;
Coyne, James C.;
Calzone, Kathleen A.;
Weber, Barbara L.

Publication type:

Comment/Reply

Autism and Genetic Disorders.

Published in:

1986

By:

Reiss, Allan L.;
Feinstein, Carl;
Rosenbaum, Kenneth N.

Publication type:

Journal Article

Thalassemia and the adolescent: An investigation of chronic illness, individuals, and systems.

Published in:

1988

By:

Georganda, Eugenia T.

Publication type:

Journal Article

A group for parents of children with fatal genetic illnesses.

Published in:

1988

By:

Mack, Sally A.;
Berman, Lauren C.

Publication type:

Journal Article

Effects of genetic vestibular defects on behavior related to spatial orientation and emotionality.

Published in:

1979

By:

Douglas, Robert J.;
Clark, Geoffrey M.;
Erway, Lawrence C.;
Hubbard, David G.;
Wright, Charles G.

Publication type:

Journal Article

Psychiatry, psychology and seizures.

Published in:

1949

By:

Lennox, William G.

Publication type:

Journal Article

The offspring of schizophrenics.

Published in:

1974

By:

Bleuler, Manfred

Publication type:

Journal Article

Genomics and Your Health - U.S. Centers for Disease Control and Prevention.

Published in:

Journal of Consumer Health on the Internet, 2025, v. 29, n. 2, p. 257, doi. 10.1080/15398285.2025.2494947

By:

Bihn, Clara

Publication type:

Article

De novo CDKN1C variant in Beckwith–Wiedermann spectrum with atypical complications.

Published in:

Human Genome Variation, 2025, v. 12, n. 1, p. 1, doi. 10.1038/s41439-025-00316-0

By:

Moriura, Yuri;
Nishio, Yosuke;
Ichimura, Shintaro;
Noda, Haruka;
Tanahashi, Yoshihiro;
Yamamoto, Hikaru;
Nakazawa, Yuka;
Oso, Taichi;
Sato, Yoshiaki;
Takenouchi, Toshiki;
Saitoh, Shinji;
Muramatsu, Yukako;
Ogi, Tomoo

Publication type:

Article

Non-Invasive Prenatal Screening for Down Syndrome: A Review of Mass-Spectrometry-Based Approaches.

Published in:

Life (2075-1729), 2025, v. 15, n. 5, p. 695, doi. 10.3390/life15050695

By:

Jurca, Răzvan Lucian;
Pralea, Ioana-Ecaterina;
Iacobescu, Maria;
Rus, Iulia;
Iuga, Cristina-Adela;
Stamatian, Florin

Publication type:

Article

Aptamer–ODN Chimeras: Enabling Cell-Specific ODN Targeting Therapy.

Published in:

Cells (2073-4409), 2025, v. 14, n. 10, p. 697, doi. 10.3390/cells14100697

By:

Xia, Bei;
Zhu, Qubo

Publication type:

Article

Current Challenges With Highly Active Antiretroviral Therapy and New Hope and Horizon With CRISPR‐CAS9 Technology for HIV Treatment.

Published in:

Chemical Biology & Drug Design, 2025, v. 105, n. 5, p. 1, doi. 10.1111/cbdd.70121

By:

Zubair, Akmal;
Sujan, Arooba;
Ali, Muhammad;
Hussain, Syeda Maryam

Publication type:

Article

Management of Seckel Syndrome with Cerebral Aneurysms: Favorable Outcomes.

Published in:

Journal of Pediatric Neurosciences, 2024, v. 19, n. 3, p. 123, doi. 10.4103/jpn.jpn_143_23

By:

Chand, Prem;
Jan, Aliyan;
Khan, Durray Shahwar A.

Publication type:

Article

Congenital Hyperinsulinism and Novel KDM6A Duplications -Resolving Pathogenicity With Genome and Epigenetic Analyses Open Access.

Published in:

Journal of Clinical Endocrinology & Metabolism, 2025, v. 110, n. 5, p. e1524, doi. 10.1210/clinem/dgae524

By:

Männistö, Jonna M E;
Hopkins, Jasmin J;
Hewat, Thomas I;
Nasser, Fatima;
Burrage, Joseph;
Dastamani, Antonia;
Mirante, Alice;
Murphy, Nuala;
Rzasa, Jessica;
Kerkhof, Jennifer;
Relator, Raissa;
Johnson, Matthew B;
Laver, Thomas W;
Weymouth, Luke;
Houghton, Jayne A L;
Wakeling, Matthew N;
Sadikovic, Bekim;
Dempster, Emma L;
Flanagan, Sarah E

Publication type:

Article

Inclusion of pyridoxine dependent epilepsy in expanded newborn screening programs by tandem mass spectrometry: set up of first and second tier tests.

Published in:

Clinical Chemistry & Laboratory Medicine, 2025, v. 63, n. 7, p. 1344, doi. 10.1515/cclm-2024-1230

By:

Damiano, Roberta;
Della Bona, Maria;
Procopio, Elena;
Guerrini, Renzo;
Bettiol, Alessandra;
la Marca, Giancarlo

Publication type:

Article

Ears of the Lynx Sign in Lipoyl Transferase-2 (LIPT2) Deficiency.

Published in:

Neurology India, 2025, v. 73, n. 3, p. 634, doi. 10.4103/neurol-india.Neurol-India-D-24-00717

By:

Sharma, Yashu;
Gunasekaran, Pradeep Kumar;
Saini, Arushi Gahlot;
Bhatia, Vikas

Publication type:

Article

Whole Genome Sequencing-Based Diagnosis of Spinocerebellar Ataxia Type 3 Repeat Expansion Neuromuscular Disorders in an Undiagnosed Patient: Breaking Past Diagnostic Boundaries.

Published in:

Neurology India, 2025, v. 73, n. 3, p. 513, doi. 10.4103/neurol-india.Neurol-India-D-24-00552

By:

Kumar, Hari Shankar;
Shah, Nidhi;
Shah, Parth;
Kotecha, Udhaya;
Mistri, Mehul;
Jarullah, Bushra

Publication type:

Article