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Literature DB >> 32508366

ASD with the Bor Syndrome: A Case Report.

Ferhat Yaylaci¹, Begum Sahbudak¹, Senol Citli¹, Neriman Kilit¹.

Abstract

Entities: Chemical

Keywords: BOR syndrome; autism spectrum disorders; autistic features; child; genetics; psychiatry

Mesh：

Year: 2020 PMID： 32508366 PMCID： PMC7255838

Source DB: PubMed Journal: Psychopharmacol Bull ISSN： 0048-5764

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References

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20 in total

1. Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations.

Authors: Pauline Krug; Vincent Morinière; Sandrine Marlin; Valérie Koubi; Heinz D Gabriel; Estelle Colin; Dominique Bonneau; Rémi Salomon; Corinne Antignac; Laurence Heidet
Journal: Hum Mutat Date: 2011-02 Impact factor: 4.878

2. Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR.

Authors: Dana J Orten; Stephanie M Fischer; Jessica L Sorensen; Uppala Radhakrishna; Cor W R J Cremers; Henri A M Marres; Guy Van Camp; Katherine O Welch; Richard J H Smith; William J Kimberling
Journal: Hum Mutat Date: 2008-04 Impact factor: 4.878

3. Genetic heritability and shared environmental factors among twin pairs with autism.

Authors: Joachim Hallmayer; Sue Cleveland; Andrea Torres; Jennifer Phillips; Brianne Cohen; Tiffany Torigoe; Janet Miller; Angie Fedele; Jack Collins; Karen Smith; Linda Lotspeich; Lisa A Croen; Sally Ozonoff; Clara Lajonchere; Judith K Grether; Neil Risch
Journal: Arch Gen Psychiatry Date: 2011-07-04

Review 9. Branchio-oto-renal syndrome.

Authors: R J Smith; C Schwartz
Journal: J Commun Disord Date: 1998 Sep-Oct Impact factor: 2.288

10. A twin study of autism in Denmark, Finland, Iceland, Norway and Sweden.

Authors: S Steffenburg; C Gillberg; L Hellgren; L Andersson; I C Gillberg; G Jakobsson; M Bohman
Journal: J Child Psychol Psychiatry Date: 1989-05 Impact factor: 8.982

ASD with the Bor Syndrome: A Case Report.

1. Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations.

2. Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR.

3. Genetic heritability and shared environmental factors among twin pairs with autism.

4. Infantile autism: a genetic study of 21 twin pairs.

Review 5. The conundrums of understanding genetic risks for autism spectrum disorders.

6. Branchio-oto-renal syndrome presenting with syndrome of hyporeninemic hypoaldosteronism.

7. The autism sequencing consortium: large-scale, high-throughput sequencing in autism spectrum disorders.

8. Associated medical disorders and disabilities in children with autistic disorder: a population-based study.

Review 9. Branchio-oto-renal syndrome.

10. A twin study of autism in Denmark, Finland, Iceland, Norway and Sweden.