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About 2,413 results

ALLMedicine™ Macrocephaly Center

Research & Reviews  1,201 results

Overexpression of CD47 is associated with brain overgrowth and 16p11.2 deletion syndrome.
https://doi.org/10.1073/pnas.2005483118
Proceedings of the National Academy of Sciences of the Un... Li J, Brickler T et. al.

Apr 9th, 2021 - Copy number variation (CNV) at the 16p11.2 locus is associated with neuropsychiatric disorders, such as autism spectrum disorder and schizophrenia. CNVs of the 16p gene can manifest in opposing head sizes. Carriers of 16p11.2 deletion tend to have...

Expression of Genes in the 16p11.2 Locus during Development of the Human Fetal Cerebral...
https://doi.org/10.1093/cercor/bhab067
Cerebral Cortex (New York, N.Y. : 1991); Morson S, Yang Y et. al.

Apr 7th, 2021 - The 593 kbp 16p11.2 copy number variation (CNV) affects the gene dosage of 29 protein coding genes, with heterozygous 16p11.2 microduplication or microdeletion implicated in about 1% of autism spectrum disorder (ASD) cases. The 16p11.2 CNV is freq...

Clinical report: Alveolar capillary dysplasia without misalignment of pulmonary veins, ...
https://doi.org/10.1016/j.ejmg.2021.104209
European Journal of Medical Genetics; Vollbach K, Trepels-Kottek S et. al.

Mar 26th, 2021 - We present a male infant with alveolar capillary dysplasia without misalignment of pulmonary veins, hyperinflammation, megalocornea and macrosomia/macrocephaly at birth. Whole-exome sequencing revealed a homozygous 2bp-insertion in the latent tran...

A rare case of postnatal mosaic trisomy 12 with severe congenital heart disease and lit...
https://doi.org/10.1002/ajmg.a.62166
American Journal of Medical Genetics. Part A; Hu X, Ayala SS et. al.

Mar 24th, 2021 - Trisomy 12 is a rare autosomal aneuploidy. All postnatally diagnosed individuals with trisomy 12 have been mosaic for this chromosome abnormality. We herein report an infant girl presented at 2 weeks of age with severe congenital heart defect, tra...

6p21.33 Deletion encompassing CSNK2B is associated with relative macrocephaly, facial d...
https://doi.org/10.1097/MCD.0000000000000372
Clinical Dysmorphology; Ohashi I, Kuroda Y et. al.

Mar 24th, 2021 - 6p21.33 Deletion encompassing CSNK2B is associated with relative macrocephaly, facial dysmorphism, and mild intellectual disability.|2021|Ohashi I,Kuroda Y,Enomoto Y,Murakami H,Masuno M,|

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Clinicaltrials.gov  1,205 results

Overexpression of CD47 is associated with brain overgrowth and 16p11.2 deletion syndrome.
https://doi.org/10.1073/pnas.2005483118
Proceedings of the National Academy of Sciences of the Un... Li J, Brickler T et. al.

Apr 9th, 2021 - Copy number variation (CNV) at the 16p11.2 locus is associated with neuropsychiatric disorders, such as autism spectrum disorder and schizophrenia. CNVs of the 16p gene can manifest in opposing head sizes. Carriers of 16p11.2 deletion tend to have...

Expression of Genes in the 16p11.2 Locus during Development of the Human Fetal Cerebral...
https://doi.org/10.1093/cercor/bhab067
Cerebral Cortex (New York, N.Y. : 1991); Morson S, Yang Y et. al.

Apr 7th, 2021 - The 593 kbp 16p11.2 copy number variation (CNV) affects the gene dosage of 29 protein coding genes, with heterozygous 16p11.2 microduplication or microdeletion implicated in about 1% of autism spectrum disorder (ASD) cases. The 16p11.2 CNV is freq...

Clinical report: Alveolar capillary dysplasia without misalignment of pulmonary veins, ...
https://doi.org/10.1016/j.ejmg.2021.104209
European Journal of Medical Genetics; Vollbach K, Trepels-Kottek S et. al.

Mar 26th, 2021 - We present a male infant with alveolar capillary dysplasia without misalignment of pulmonary veins, hyperinflammation, megalocornea and macrosomia/macrocephaly at birth. Whole-exome sequencing revealed a homozygous 2bp-insertion in the latent tran...

A rare case of postnatal mosaic trisomy 12 with severe congenital heart disease and lit...
https://doi.org/10.1002/ajmg.a.62166
American Journal of Medical Genetics. Part A; Hu X, Ayala SS et. al.

Mar 24th, 2021 - Trisomy 12 is a rare autosomal aneuploidy. All postnatally diagnosed individuals with trisomy 12 have been mosaic for this chromosome abnormality. We herein report an infant girl presented at 2 weeks of age with severe congenital heart defect, tra...

6p21.33 Deletion encompassing CSNK2B is associated with relative macrocephaly, facial d...
https://doi.org/10.1097/MCD.0000000000000372
Clinical Dysmorphology; Ohashi I, Kuroda Y et. al.

Mar 24th, 2021 - 6p21.33 Deletion encompassing CSNK2B is associated with relative macrocephaly, facial dysmorphism, and mild intellectual disability.|2021|Ohashi I,Kuroda Y,Enomoto Y,Murakami H,Masuno M,|

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News  7 results

Pediatric Nevoid Basal Cell Carcinoma Syndrome
https://www.mdedge.com/dermatology/article/153343/pediatrics/pediatric-nevoid-basal-cell-carcinoma-syndrome/page/0/1

Dec 4th, 2017 - Comment Classification and Clinical Presentation Nevoid basal cell carcinoma syndrome is a multisystem disorder that requires close monitoring under multidisciplinary care. Evans et al6 defined the diagnostic criteria of NBCCS to require the prese.

Genetic Mutation Flags Autism Subtype
https://www.medscape.com/viewarticle/828078

Jul 9th, 2014 - Disruptive mutations in chromodomain helicase DNA-binding protein 8 (CHD8) represent one pathway in the development of autism spectrum disorder (ASD) and define a distinct ASD subtype, new international research shows. Characteristics "enriched" i...

Genetic Mutation Flags Autism Subtype
https://www.staging.medscape.com/viewarticle/828078

Jul 9th, 2014 - Disruptive mutations in chromodomain helicase DNA-binding protein 8 (CHD8) represent one pathway in the development of autism spectrum disorder (ASD) and define a distinct ASD subtype, new international research shows. Characteristics "enriched" i...

Macrocephaly, Autism Not Linked in Twin Study
https://www.mdedge.com/familymedicine/article/41279/neurology/macrocephaly-autism-not-linked-twin-study
Pediatric News; Heidi Splete

Nov 1st, 2011 - TORONTO – Macroencephaly was not significantly more common in twins with autism spectrum disorders than in their unaffected co-twins, according to data from 202 twin pairs presented at the annual meeting of the American Academy of Child and Adoles.

Study Finds No Correlation Between Autism, Macrocephaly
https://www.mdedge.com/psychiatry/article/20637/pediatrics/study-finds-no-correlation-between-autism-macrocephaly
Doug Brunk

SAN DIEGO – There appear to be no differences in the mean head circumference between children with and without autism, results from a population-based case-control study show. The finding differs from other smaller studies that have reported incre.

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