CARLOS BACINO to Intellectual Disability
This is a "connection" page, showing publications CARLOS BACINO has written about Intellectual Disability.
Connection Strength
2.622
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Array-based comparative genomic hybridization facilitates identification of breakpoints of a novel der(1)t(1;18)(p36.3;q23)dn in a child presenting with mental retardation. Am J Med Genet A. 2006 Jun 01; 140(11):1156-63.
Score: 0.157
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MED12 Loss-of-Function Variants as a Cause of Congenital Diaphragmatic Hernia in Females With Hardikar Syndrome and Nonspecific Intellectual Disability. Am J Med Genet A. 2025 Jan; 197(1):e63868.
Score: 0.139
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A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3. Am J Hum Genet. 2024 01 04; 111(1):96-118.
Score: 0.133
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De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities. Am J Med Genet A. 2024 01; 194(1):17-30.
Score: 0.130
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YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse. Genet Med. 2023 07; 25(7):100835.
Score: 0.126
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De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement. Am J Hum Genet. 2022 10 06; 109(10):1932-1943.
Score: 0.122
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Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis. Brain. 2022 08 27; 145(8):2687-2703.
Score: 0.121
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A novel, de novo intronic variant in POGZ causes White-Sutton syndrome. Am J Med Genet A. 2022 07; 188(7):2198-2203.
Score: 0.118
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Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency. Hum Mutat. 2022 04; 43(4):461-470.
Score: 0.116
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Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype. Genet Med. 2022 01; 24(1):179-191.
Score: 0.115
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Detection of a cryptic translocation in a family with mental retardation using FISH and telomere region-specific probes. Am J Med Genet. 2000 Jun 05; 92(4):250-5.
Score: 0.104
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De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy. Am J Hum Genet. 2020 05 07; 106(5):717-725.
Score: 0.103
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BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder. Hum Mutat. 2020 05; 41(5):921-925.
Score: 0.101
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Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency. Genet Med. 2020 03; 22(3):524-537.
Score: 0.099
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ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder. Am J Hum Genet. 2019 02 07; 104(2):319-330.
Score: 0.094
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Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases. Eur J Hum Genet. 2017 06; 25(6):694-701.
Score: 0.083
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De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive. Am J Hum Genet. 2016 09 01; 99(3):720-727.
Score: 0.080
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The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families. Genet Med. 2017 01; 19(1):45-52.
Score: 0.078
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De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum. Hum Genet. 2015 Jan; 134(1):97-109.
Score: 0.070
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Expanding the genotype-phenotype correlation in subtelomeric 19p13.3 microdeletions using high resolution clinical chromosomal microarray analysis. Am J Med Genet A. 2013 Dec; 161A(12):2953-63.
Score: 0.065
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Haploinsufficiency of SOX5, a member of the SOX (SRY-related HMG-box) family of transcription factors is a cause of intellectual disability. Eur J Med Genet. 2013 Feb; 56(2):108-13.
Score: 0.062
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Identification of novel mutations confirms PDE4D as a major gene causing acrodysostosis. Hum Mutat. 2013 Jan; 34(1):97-102.
Score: 0.061
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Recurrent distal 7q11.23 deletion including HIP1 and YWHAG identified in patients with intellectual disabilities, epilepsy, and neurobehavioral problems. Am J Hum Genet. 2010 Dec 10; 87(6):857-65.
Score: 0.053
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Brief report: autistic symptoms, developmental regression, mental retardation, epilepsy, and dyskinesias in CNS folate deficiency. J Autism Dev Disord. 2008 Jul; 38(6):1170-7.
Score: 0.043
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ATR-16 due to a de novo complex rearrangement of chromosome 16. Hemoglobin. 2005; 29(2):141-50.
Score: 0.036
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Recurrent carotid paragangliomas in a syndromic patient with a heterozygous missense variant in DNA Methyltransferase 3 Alpha. Am J Med Genet A. 2025 Jan; 197(1):e63849.
Score: 0.035
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Cognitive and adaptive behavior profiles of children with Angelman syndrome. Am J Med Genet A. 2004 Jul 15; 128A(2):110-3.
Score: 0.034
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UBR7 functions with UBR5 in the Notch signaling pathway and is involved in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidism. Am J Hum Genet. 2021 01 07; 108(1):134-147.
Score: 0.027
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Level of residual enzyme activity modulates the phenotype in phosphoglycerate kinase deficiency. Neurology. 2018 09 11; 91(11):e1077-e1082.
Score: 0.023
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High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. Am J Hum Genet. 2017 Nov 02; 101(5):664-685.
Score: 0.022
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De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder. Am J Hum Genet. 2017 Feb 02; 100(2):352-363.
Score: 0.021
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Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats. Hum Mutat. 2012 Jan; 33(1):165-79.
Score: 0.014
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Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological? Hum Mutat. 2010 Jul; 31(7):840-50.
Score: 0.013
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Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 cases. Am J Med Genet A. 2008 Sep 01; 146A(17):2242-51.
Score: 0.011
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Cerebral folate deficiency with developmental delay, autism, and response to folinic acid. Neurology. 2005 Mar 22; 64(6):1088-90.
Score: 0.009
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Normal expression of the Fanconi anemia proteins FAA and FAC and sensitivity to mitomycin C in two patients with Seckel syndrome. Am J Med Genet. 1999 Apr 23; 83(5):388-91.
Score: 0.006