G. Spiridigliozzi

发表

Loss-of-function in IRF2BPL is associated with neurological phenotypes

Henry J. Lin, Rebecca C. Spillmann, Michael F. Wangler, 2018, bioRxiv.

Arithmetic difficulties in females with the fragile X premutation

G. Spiridigliozzi, D. Dawson, A. McConkie-Rosell, 2006, American journal of medical genetics. Part A.

Cognitive outcome of patients with classic infantile Pompe disease receiving enzyme therapy

G. Spiridigliozzi, P. Kishnani, J. Heller, 2013, Neurology.

Pharmacological interventions to improve cognition and adaptive functioning in Down syndrome: Strides to date

Sarah J. Hart, Cesar Ochoa-Lubinoff, Maria-Clemencia Hernández, 2017, American journal of medical genetics. Part A.

Aberrant behaviors of young boys with fragile X syndrome.

C. Gullion, G. Spiridigliozzi, A. Lachiewicz, 1994, American journal of mental retardation : AJMR.

Person Ability Scores as an Alternative to Norm-Referenced Scores as Outcome Measures in Studies of Neurodevelopmental Disorders.

S. Waisbren, V. Sutton, N. Akshoomoff, 2020, American journal on intellectual and developmental disabilities.

Declining IQs of young males with the fragile X syndrome.

C. Gullion, A. Aylsworth, G. Spiridigliozzi, 1987, American journal of mental retardation : AJMR.

DOWN SYNDROME

Sarah J. Hart, G. Spiridigliozzi, P. Kishnani, 2020, Cassidy and Allanson's Management of Genetic Syndromes.

Safety and efficacy of rivastigmine in adolescents with Down syndrome: long-term follow-up.

J. A. McKillop, G. Spiridigliozzi, P. Kishnani, 2010, Journal of child and adolescent psychopharmacology.

Donepezil effects on language in children with Down syndrome: Results of the first 22‐week pilot clinical trial

P. Doraiswamy, G. Spiridigliozzi, P. Kishnani, 2004, American journal of medical genetics. Part A.

The efficacy, safety, and tolerability of donepezil for the treatment of young adults with Down syndrome

B. Seltzer, T. McRae, G. Capone, 2009, American journal of medical genetics. Part A.

Cholinergic therapy for Down's syndrome

K. Krishnan, P. Doraiswamy, G. Spiridigliozzi, 1999, The Lancet.

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

G. Spiridigliozzi, T. Iafolla, A. McConkie-Rosell, 1997, American journal of medical genetics.

Living with genetic risk: Effect on adolescent self‐concept

G. Spiridigliozzi, D. Dawson, A. McConkie-Rosell, 2008, American journal of medical genetics. Part C, Seminars in medical genetics.

Behavioral, social and school functioning in children with Pompe disease

G. Spiridigliozzi, P. Kishnani, S. Austin, 2020, Molecular genetics and metabolism reports.

Preliminary study of the safety and efficacy of donepezil hydrochloride in children with Down syndrome: A clinical report series

Jennifer S. Li, D. Dawson, G. Spiridigliozzi, 2007, American journal of medical genetics. Part A.

A fragile X male with a broad smear on Southern blot analysis representing 100-500 CGG repeats and no methylation at the EagI site of the FMR-1 gene.

S. Warren, G. Spiridigliozzi, A. McConkie-Rosell, 1996, American journal of medical genetics.

IRF2BPL Is Associated with Neurological Phenotypes.

Henry J. Lin, Rebecca C. Spillmann, Michael F. Wangler, 2018, American journal of human genetics.

Fryns syndrome survivors and neurologic outcome.

G. Spiridigliozzi, J. V. Van Hove, S. Kahler, 1995, American journal of medical genetics.

Donepezil for Down's syndrome.

K. Krishnan, P. Doraiswamy, G. Spiridigliozzi, 2001, The American journal of psychiatry.

Clinical trials in children with Down syndrome: Issues from a cognitive research perspective

Jennifer S. Li, G. Spiridigliozzi, P. Kishnani, 2006, American journal of medical genetics. Part C, Seminars in medical genetics.

Challenges in measuring the effects of pharmacological interventions on cognitive and adaptive functioning in individuals with Down syndrome: A systematic review

Sarah J. Hart, G. Spiridigliozzi, P. Kishnani, 2017, American journal of medical genetics. Part A.

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

G. Spiridigliozzi, A. McConkie-Rosell, E. Heise, 2009, Journal of Genetic Counseling.

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

G. Spiridigliozzi, A. McConkie-Rosell, 2004, Journal of Genetic Counseling.

Indicators of anxiety and depression in women with the fragile X premutation: assessment of a clinical sample.

M. Cuccaro, G. Spiridigliozzi, D. Dawson, 2010, Journal of intellectual disability research : JIDR.

Evidence that methylation of the FMR-I locus is responsible for variable phenotypic expression of the fragile X syndrome.

W. Brown, G. Spiridigliozzi, A. McConkie-Rosell, 1993, American journal of human genetics.

Physical characteristics of young boys with fragile X syndrome: reasons for difficulties in making a diagnosis in young males.

G. Spiridigliozzi, D. Dawson, A. Lachiewicz, 2000, American journal of medical genetics.

Control over stress, type A behavior pattern, and response to stress.

B. Houston, G. Spiridigliozzi, M. Pittner, 1983, Journal of personality and social psychology.

Adaptive behavior in adolescents and adults with Down syndrome: Results from a 6‐month longitudinal study

Sarah J. Hart, L. Squassante, G. Spiridigliozzi, 2018, American journal of medical genetics. Part A.

Safety and efficacy of rivastigmine in adolescents with Down syndrome: a preliminary 20-week, open-label study.

K. Krishnan, P. Doraiswamy, Jennifer S. Li, 2006, Journal of child and adolescent psychopharmacology.

Novel approaches to quantify CNS involvement in children with Pompe disease

J. Provenzale, G. Spiridigliozzi, K. Zimmerman, 2020, Neurology.

Cognitive and academic outcomes in long-term survivors of infantile-onset Pompe disease: A longitudinal follow-up.

G. Spiridigliozzi, P. Kishnani, S. Austin, 2017, Molecular genetics and metabolism.

IRF2BPL Is Associated with Neurological Phenotypes.

Henry J. Lin, Rebecca C. Spillmann, Michael F. Wangler, 2018, American journal of human genetics.

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

G. Spiridigliozzi, D. Dawson, A. McConkie-Rosell, 2001, American journal of medical genetics.

Assessment of Cognitive Scales to Examine Memory, Executive Function and Language in Individuals with Down Syndrome: Implications of a 6-month Observational Study

L. Squassante, G. Spiridigliozzi, O. Khwaja, 2015, Front. Behav. Neurosci..

Carrier testing in fragile X syndrome: effect on self-concept.

G. Spiridigliozzi, D. Dawson, A. McConkie-Rosell, 2000, American journal of medical genetics.

Trajectories and profiles of adaptive behavior in males with fragile X syndrome: Multicenter studies

A. Reiss, L. Freund, S. Ort, 1996, Journal of autism and developmental disorders.

Affective Isolation as a Coping Strategy for Persons with Low and High Amounts of Life Stress.

G. Spiridigliozzi, J. Kremer, 1982 .

Early cognitive development in children with infantile Pompe disease.

G. Spiridigliozzi, P. Kishnani, L. Case, 2012, Molecular Genetics and Metabolism.

Cognitive and adaptive functioning of children with infantile Pompe disease treated with enzyme replacement therapy: Long‐term follow‐up

G. Spiridigliozzi, P. Kishnani, J. Heller, 2012, American journal of medical genetics. Part C, Seminars in medical genetics.

Habituation and Cognitive Performance: Relationships Between Measures at Four Years of Age and Earlier Assessments

G. Spiridigliozzi, E. Ryan, Dolores J. Miller, 1980 .

Donepezil for treatment of cognitive dysfunction in children with Down syndrome aged 10–17

T. McRae, I. Lott, G. Spiridigliozzi, 2010, American journal of medical genetics. Part A.

High performing male with fragile X syndrome with an unmethylated FMR1 full mutation: The relevance of clinical and genetic correlations

M. McDonald, G. Spiridigliozzi, T. Adayev, 2023, Clinical case reports.

Donepezil use in Down syndrome.

G. Spiridigliozzi, P. Kishnani, Blythe G. Crissman, 2004, Archives of neurology.

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

G. Spiridigliozzi, A. McConkie-Rosell, E. Heise, 2012, Journal of Genetic Counseling.

Parental attitudes regarding carrier testing in children at risk for fragile X syndrome.

G. Spiridigliozzi, D. Dawson, A. McConkie-Rosell, 1999, American journal of medical genetics.

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

G. Spiridigliozzi, A. McConkie-Rosell, Deborah V. Dawson, 2009, American journal of medical genetics. Part A.

Carrier testing in fragile X syndrome: when to tell and test.

G. Spiridigliozzi, D. Dawson, A. McConkie-Rosell, 2002, American journal of medical genetics.

Safety and efficacy of rivastigmine in children with Down syndrome: A double blind placebo controlled trial

Sarah J. Hart, G. Capone, G. Spiridigliozzi, 2016, American journal of medical genetics. Part A.

Donepezil for the treatment of language deficits in adults with Down syndrome: A preliminary 24‐week open trial

P. Doraiswamy, R. Krishnan, G. Spiridigliozzi, 2003, American journal of medical genetics. Part A.

Cognitive and academic outcomes in long-term survivors of infantile-onset Pompe disease: A longitudinal follow-up.

G. Spiridigliozzi, P. Kishnani, S. Austin, 2017, Molecular genetics and metabolism.

Early cognitive development in children with infantile Pompe disease.

G. Spiridigliozzi, P. Kishnani, L. Case, 2012, Molecular genetics and metabolism.