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Updated consensus guidelines on the management of Phelan–McDermid syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 8, p. 2015, doi. 10.1002/ajmg.a.63312
By:
- Srivastava, Siddharth;
- Sahin, Mustafa;
- Buxbaum, Joseph D.;
- Berry‐Kravis, Elizabeth;
- Soorya, Latha Valluripalli;
- Thurm, Audrey;
- Bernstein, Jonathan A.;
- Asante‐Otoo, Afua;
- Bennett, William E.;
- Betancur, Catalina;
- Brickhouse, Tegwyn H.;
- Passos Bueno, Maria Rita;
- Chopra, Maya;
- Christensen, Celanie K.;
- Cully, Jennifer L.;
- Dies, Kira;
- Friedman, Kate;
- Gummere, Brittany;
- Holder, J. Lloyd;
- Jimenez‐Gomez, Andres
Publication type:
Article
Two de novo novel mutations in one <italic>SHANK3</italic> allele in a patient with autism and moderate intellectual disability.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 973, doi. 10.1002/ajmg.a.38622
By:
- Zhu, Wenmiao;
- Li, Jianli;
- Chen, Stella;
- Zhang, Jinglan;
- Vetrini, Francesco;
- Braxton, Alicia;
- Eng, Christine M.;
- Yang, Yaping;
- Xia, Fan;
- Keller, Kory L.;
- Okinaka‐Hu, Leila;
- Lee, Chung;
- Holder, Jr, J. Lloyd;
- Bi, Weimin
Publication type:
Article
Refinement of the postnatal growth restriction locus of chromosome 5q12-13 deletion syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2737, doi. 10.1002/ajmg.a.37228
By:
- Holder, J. Lloyd;
- Cheung, Sau‐Wai
Publication type:
Article
A child with an inherited 0.31 Mb microdeletion of chromosome 14q32.33: Further delineation of a critical region for the 14q32 deletion syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 8, p. 1962, doi. 10.1002/ajmg.a.35289
By:
- Holder, J. Lloyd;
- Lotze, Timothy E.;
- Bacino, Carlos;
- Cheung, Sau-Wai
Publication type:
Article
Sleep Abnormalities in the Synaptopathies— SYNGAP1 -Related Intellectual Disability and Phelan–McDermid Syndrome.
Published in:
Brain Sciences (2076-3425), 2021, v. 11, n. 9, p. 1229, doi. 10.3390/brainsci11091229
By:
- Smith-Hicks, Constance;
- Wright, Damien;
- Kenny, Aisling;
- Stowe, Robert C.;
- McCormack, Maria;
- Stanfield, Andrew C.;
- Holder Jr., J. Lloyd
Publication type:
Article
COVID-19 Induced Environments, Health-Related Quality of Life Outcomes and Problematic Behaviors: Evidence from Children with Syndromic Autism Spectrum Disorders.
Published in:
Journal of Autism & Developmental Disorders, 2023, v. 53, n. 3, p. 1000, doi. 10.1007/s10803-022-05619-7
By:
- Bolbocean, Corneliu;
- Rhidenour, Kayla B;
- McCormack, Maria;
- Suter, Bernhard;
- Holder, J Lloyd
Publication type:
Article
Health-Related Quality of Life in Pediatric Patients with Syndromic Autism and their Caregivers.
Published in:
Journal of Autism & Developmental Disorders, 2022, v. 52, n. 3, p. 1334, doi. 10.1007/s10803-021-05030-8
By:
- Bolbocean, Corneliu;
- Andújar, Fabiola N.;
- McCormack, Maria;
- Suter, Bernhard;
- Holder Jr., J. Lloyd
Publication type:
Article
Phenotypic characterization of individuals with SYNGAP1 pathogenic variants reveals a potential correlation between posterior dominant rhythm and developmental progression.
Published in:
Journal of Neurodevelopmental Disorders, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s11689-019-9276-y
By:
- Jimenez-Gomez, Andres;
- Niu, Sizhe;
- Andujar-Perez, Fabiola;
- McQuade, Elizabeth A.;
- Balasa, Alfred;
- Huss, David;
- Coorg, Rohini;
- Quach, Michael;
- Vinson, Sherry;
- Risen, Sarah;
- Holder, J. Lloyd
Publication type:
Article
The first international conference on <italic>SYNGAP1</italic>-related brain disorders: a stakeholder meeting of families, researchers, clinicians, and regulators.
Published in:
Journal of Neurodevelopmental Disorders, 2018, v. 10, n. 1, p. 1, doi. 10.1186/s11689-018-9225-1
By:
- Weldon, Monica;
- Kilinc, Murat;
- Lloyd Holder, J.;
- Rumbaugh, Gavin
Publication type:
Article
Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27.
Published in:
European Journal of Human Genetics, 2015, v. 23, n. 1, p. 54, doi. 10.1038/ejhg.2014.51
By:
- Peddibhotla, Sirisha;
- Nagamani, Sandesh CS;
- Erez, Ayelet;
- Hunter, Jill V;
- Holder Jr, J Lloyd;
- Carlin, Mary E;
- Bader, Patricia I;
- Perras, Helene MF;
- Allanson, Judith E;
- Newman, Leslie;
- Simpson, Gayle;
- Immken, LaDonna;
- Powell, Erin;
- Mohanty, Aaron;
- Kang, Sung-Hae L;
- Stankiewicz, Pawel;
- Bacino, Carlos A;
- Bi, Weimin;
- Patel, Ankita;
- Cheung, Sau W
Publication type:
Article
Infantile Spasms and Hyperekplexia Associated With Isolated Sulfite Oxidase Deficiency.
Published in:
JAMA Neurology, 2014, v. 71, n. 6, p. 782, doi. 10.1001/jamaneurol.2013.5083
By:
- Holder Jr., J. Lloyd;
- Agadi, Satish;
- Reese, William;
- Rehder, Catherine;
- Quach, Michael M.
Publication type:
Article
The spectrum of epilepsy and electroencephalographic abnormalities due to SHANK3 loss-of-function mutations.
Published in:
Epilepsia (Series 4), 2016, v. 57, n. 10, p. 1651, doi. 10.1111/epi.13506
By:
- Holder, J. Lloyd;
- Quach, Michael M.
Publication type:
Article
Social behavioral impairments in SYNGAP1-related intellectual disability.
Published in:
Frontiers in Pediatrics, 2023, p. 1, doi. 10.3389/fped.2023.1188117
By:
- Naveed, Hajer;
- McCormack, Maria;
- Holder Jr, J. Lloyd
Publication type:
Article
Clinical, genetic, and cognitive correlates of seizure occurrences in Phelan-McDermid syndrome.
Published in:
Journal of Neurodevelopmental Disorders, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s11689-024-09541-0
By:
- Levy, Tess;
- Gluckman, Jacob;
- Siper, Paige M.;
- Halpern, Danielle;
- Zweifach, Jessica;
- Filip-Dhima, Rajna;
- Holder Jr., J. Lloyd;
- Trelles, M. Pilar;
- Johnson, Kristina;
- Bernstein, Jonathan A.;
- Berry-Kravis, Elizabeth;
- Powell, Craig M.;
- Soorya, Latha Valluripalli;
- Thurm, Audrey;
- Buxbaum, Joseph D.;
- Sahin, Mustafa;
- Kolevzon, Alexander;
- Srivastava, Siddharth
Publication type:
Article
SHANK3 overexpression causes manic-like behaviour with unique pharmacogenetic properties.
Published in:
Nature, 2013, v. 503, n. 7474, p. 72, doi. 10.1038/nature12630
By:
- Han, Kihoon;
- Holder Jr, J. Lloyd;
- Schaaf, Christian P.;
- Lu, Hui;
- Chen, Hongmei;
- Kang, Hyojin;
- Tang, Jianrong;
- Wu, Zhenyu;
- Hao, Shuang;
- Cheung, Sau Wai;
- Yu, Peng;
- Sun, Hao;
- Breman, Amy M.;
- Patel, Ankita;
- Lu, Hui-Chen;
- Zoghbi, Huda Y.
Publication type:
Article
SYNGAP1 Controls the Maturation of Dendrites, Synaptic Function, and Network Activity in Developing Human Neurons.
Published in:
Journal of Neuroscience, 2020, v. 40, n. 41, p. 7980, doi. 10.1523/jneurosci.1367-20.2020
By:
- Llamosas, Nerea;
- Arora, Wineet;
- Vij, Ridhima;
- Kilinc, Murat;
- Bijoch, Lukasz;
- Rojas, Camilo;
- Reich, Adrian;
- Sridharan, BanuPriya;
- Willems, Erik;
- Piper, David R.;
- Scampavia, Louis;
- Spicer, Timothy P.;
- Miller, Courtney A.;
- Holder, J. Lloyd;
- Rumbaugh, Gavin
Publication type:
Article
Profound obesity associated with a balanced translocation that disrupts the SIM1 gene.
Published in:
Human Molecular Genetics, 2000, v. 9, n. 1, p. 101
By:
- Holder, Jr., J. Lloyd;
- Butte, Nancy F.;
- Zinn, Andrew R.
Publication type:
Article
Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by <italic>SHANK3</italic> point mutations.
Published in:
Molecular Autism, 2018, v. 9, n. 1, p. N.PAG, doi. 10.1186/s13229-018-0205-9
By:
- De Rubeis, Silvia;
- Siper, Paige M.;
- Durkin, Allison;
- Weissman, Jordana;
- Muratet, François;
- Halpern, Danielle;
- Trelles, Maria del Pilar;
- Frank, Yitzchak;
- Lozano, Reymundo;
- Wang, A. Ting;
- Holder, J. Lloyd;
- Betancur, Catalina;
- Buxbaum, Joseph D.;
- Kolevzon, Alexander
Publication type:
Article

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