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  1. 1
    Spectrum of neurodevelopmental disabilities in children with cerebellar malformations

    Spectrum of neurodevelopmental disabilities in children with cerebellar malformations Autor Marie-Ève Bolduc, Adré J. du Plessis, Nancy Sullivan, Omar Khwaja, Xun Zhang, Katherine Barnes, Richard L. Robertson, Catherine Limperopoulos

    Vydáno 2011
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  2. 2
    Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study

    Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study Autor Ghayda Mirzaa, Valerio Conti, Andrew E. Timms, Christopher D. Smyser, Sarah Ahmed, Melissa Carter, Sarah Barnett, Robert B. Hufnagel, Amy Goldstein, Yoko Narumi‐Kishimoto, Carissa Olds, Sarah Collins, Kathreen Johnston, Jean‐François Deleuze, Patrick Nitschké, Kathryn Friend, Catharine Harris, Allison L. Goetsch, Beth Martin, Evan A. Boyle, Elena Parrini, Davide Mei, Lorenzo Tattini, Anne Slavotinek, Ed Blair, Christopher Barnett, Jay Shendure, Jamel Chelly, William B. Dobyns, Renzo Guerrini

    Vydáno 2015
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  3. 3
    Genetic testing in patients with global developmental delay/intellectual disabilities. A review

    Genetic testing in patients with global developmental delay/intellectual disabilities. A review Autor Diana Miclea, Loredana Peca, Zina Cuzmici, Ioan Pop

    Vydáno 2015
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    Revisão
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  4. 4
    Genotype–phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/<i>PIGN</i>‐related epilepsy

    Genotype–phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/<i>PIGN</i>‐related epilepsy Autor Leah R. Fleming, Monica E. Lemmon, Natalie Beck, Maria R. Johnson, Weiyi Mu, David R. Murdock, Joann Bodurtha, Julie Hoover‐Fong, Ronald D. Cohn, Thangamadhan Bosemani, Kristin Barañano, Ada Hamosh

    Vydáno 2015
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  5. 5
    Microcephaly, epilepsy, and neonatal diabetes due to compound heterozygous mutations in<i>IER3IP1</i>: insights into the natural history of a rare disorder

    Microcephaly, epilepsy, and neonatal diabetes due to compound heterozygous mutations in<i>IER3IP1</i>: insights into the natural history of a rare disorder Autor Stavit A. Shalev, Yardena Tenenbaum‐Rakover, Yoseph Horovitz, Veronica Paz, Honggang Ye, David Carmody, Heather M. Highland, Eric Boerwinkle, Craig L. Hanis, Donna M. Muzny, Richard A. Gibbs, Graeme I. Bell, Louis H. Philipson, Siri Atma W. Greeley

    Vydáno 2013
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  6. 6
    Autism spectrum disorder in Phelan-McDermid syndrome: initial characterization and genotype-phenotype correlations

    Autism spectrum disorder in Phelan-McDermid syndrome: initial characterization and genotype-phenotype correlations Autor Lindsay M. Oberman, Luigi Boccuto, Lauren Cascio, Sara M. Sarasua, Walter E. Kaufmann

    Vydáno 2015
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  7. 7
    Global and Regional Differences in Brain Anatomy of Young Children Born Small for Gestational Age

    Global and Regional Differences in Brain Anatomy of Young Children Born Small for Gestational Age Autor Henrica M. A. de Bie, Kim J. Oostrom, Maria Boersma, Dick J. Veltman, Frederik Barkhof, Henriëtte A. Delemarre‐van de Waal, Martijn P. van den Heuvel

    Vydáno 2011
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  8. 8
    Long term health and neurodevelopment in children exposed to antiepileptic drugs before birth

    Long term health and neurodevelopment in children exposed to antiepileptic drugs before birth Autor John Dean

    Vydáno 2002
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  9. 9
    De novoframeshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies

    De novoframeshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies Autor Darrell L. Dinwiddie, Sarah Soden, Carol Saunders, Neil Miller, Emily Farrow, Laurie D. Smith, Stephen F. Kingsmore

    Vydáno 2013
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  10. 10
    De Novo Nonsense Mutations in KAT6A, a Lysine Acetyl-Transferase Gene, Cause a Syndrome Including Microcephaly and Global Developmental Delay

    De Novo Nonsense Mutations in KAT6A, a Lysine Acetyl-Transferase Gene, Cause a Syndrome Including Microcephaly and Global Developmental Delay Autor Valerie A. Arboleda, Hane Lee, Naghmeh Dorrani, Neda Zadeh, Mary Willis, Colleen Macmurdo, Melanie A. Manning, Andrea Kwan, Louanne Hudgins, Florian Barthélémy, M. Carrie Miceli, Fabiola Quintero‐Rivera, Sibel Kantarci, Samuel P. Strom, Joshua L. Deignan, Wayne W. Grody, Éric Vilain, Stanley F. Nelson

    Vydáno 2015
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  11. 11
    De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing

    De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing Autor Samuel P. Strom, Reymundo Lozano, Hane Lee, Naghmeh Dorrani, John Mann, Patricia O'Lague, Nicole Mans, Joshua L. Deignan, Éric Vilain, Stanley F. Nelson, Wayne W. Grody, Fabiola Quintero‐Rivera

    Vydáno 2014
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  12. 12
    Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity

    Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity Autor Ruxandra Bachmann‐Gagescu, Heather C. Mefford, Charles A. Cowan, Gwen M. Glew, Anne Hing, Stephanie E Wallace, Patricia I. Bader, Aline I. Hamati, Pamela J. Reitnauer, Rosemarie Smith, David W. Stockton, Hiltrud Muhle, Ingo Helbig, Evan E. Eichler, Blake C. Ballif, Jill A. Rosenfeld, Karen D. Tsuchiya

    Vydáno 2010
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  13. 13
    12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech

    12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech Autor Julien Thévenon, Patrick Callier, Joris Andrieux, Bruno Delobel, Albert David, Sylvie Sukno, Delphine Minot, Laure Mosca Anne, Nathalie Marle, Damien Sanlaville, Marlène Bonnet, Alice Masurel‐Paulet, Fabienne Levy, Lorraine Gaunt, Sandra A. Farrell, Cédric Le Caignec, Annick Toutain, Virginie Carmignac, Francine Mugneret, Jill Clayton‐Smith, Christel Thauvin‐Robinet, Laurence Faivre

    Vydáno 2012
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  14. 14
    Disruption of Contactin 4 (CNTN4) Results in Developmental Delay and Other Features of 3p Deletion Syndrome

    Disruption of Contactin 4 (CNTN4) Results in Developmental Delay and Other Features of 3p Deletion Syndrome Autor Thomas Fernandez, Thomas M. Morgan, Nicole R. Davis, Ami Klin, Ashley Morris, Anita Farhi, Richard P. Lifton, Matthew W. State

    Vydáno 2004
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  15. 15
    De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females

    De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females Autor Bernt Popp, Svein I. Støve, Sabine Endele, Line M. Myklebust, Juliane Hoyer, Heinrich Sticht, Silvia Azzarello‐Burri, Anita Rauch, Thomas Arnesen, André Reis

    Vydáno 2014
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  16. 16
    Chiari I malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiency

    Chiari I malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiency Autor Christopher W. Carr, Daniel Moreno‐De‐Luca, Colette C. Parker, Holly H. Zimmerman, Nikki Ledbetter, Alastair J. Martin, William B. Dobyns, Omar Abdul‐Rahman

    Vydáno 2010
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  17. 17
    Severe mental retardation, seizures, and hypotonia due to deletions of <i>MEF2C</i>

    Severe mental retardation, seizures, and hypotonia due to deletions of <i>MEF2C</i> Autor Beata Nowakowska, Ewa Obersztyn, Krystyna Szymańska, Monika Bekiesińska‐Figatowska, Zhilian Xia, Christian B. Ricks, Ewa Bocian, David W. Stockton, Krzysztof Szczałuba, Magdalena Nawara, Ankita Patel, Daryl A. Scott, Sau Wai Cheung, Timothy P. Bohan, Paweł Stankiewicz

    Vydáno 2010
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  18. 18
    New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish

    New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish Autor Deborah Morris‐Rosendahl, Reeval Segel, A.P. Born, Christoph Conrad, Bart Loeys, Susan Sklower Brooks, Laura S. M. Müller, Christine Zeschnigk, Christina Botti, Ron Rabinowitz, Gökhan Uyanık, Marc‐Antoine Crocq, Uwe Kraus, Ingrid Degen, Fran Faes

    Vydáno 2010
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  19. 19
    An Autosomal Recessive Form of Bilateral Frontoparietal Polymicrogyria Maps to Chromosome 16q12.2-21

    An Autosomal Recessive Form of Bilateral Frontoparietal Polymicrogyria Maps to Chromosome 16q12.2-21 Autor Xianhua Piao, Lina Basel‐Vanagaite, Rachel Straussberg, P. Ellen Grant, Elizabeth Pugh, Kim Doheny, Betty Doan, Susan E. Hong, Yin Yao Shugart, Christopher A. Walsh

    Vydáno 2002
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  20. 20
    A de novo FOXP1 variant in a patient with autism, intellectual disability and severe speech and language impairment

    A de novo FOXP1 variant in a patient with autism, intellectual disability and severe speech and language impairment Autor Reymundo Lozano, Arianna Vino, Cristina Lozano, Simon E. Fisher, Pelagia Deriziotis

    Vydáno 2015
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