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Literature DB >> 16691624

Intracranial anomalies detected by imaging studies in 30 patients with Apert syndrome.

Fabiola Quintero-Rivera¹, Caroline D Robson, Rosemary E Reiss, Deborah Levine, Carol B Benson, John B Mulliken, Virginia E Kimonis.

Abstract

Entities: Disease Species

Mesh：

Year: 2006 PMID： 16691624 DOI： 10.1002/ajmg.a.31277

Source DB: PubMed Journal: Am J Med Genet A ISSN： 1552-4825 Impact factor: 2.802

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11 in total

1. Genetic overlap in Kallmann syndrome, combined pituitary hormone deficiency, and septo-optic dysplasia.

Authors: Taneli Raivio; Magdalena Avbelj; Mark J McCabe; Christopher J Romero; Andrew A Dwyer; Johanna Tommiska; Gerasimos P Sykiotis; Louise C Gregory; Daniel Diaczok; Vaitsa Tziaferi; Mariet W Elting; Raja Padidela; Lacey Plummer; Cecilia Martin; Bihua Feng; Chengkang Zhang; Qun-Yong Zhou; Huaibin Chen; Moosa Mohammadi; Richard Quinton; Yisrael Sidis; Sally Radovick; Mehul T Dattani; Nelly Pitteloud
Journal: J Clin Endocrinol Metab Date: 2012-02-08 Impact factor: 5.958

2. Comparison of ultrasound and magnetic resonance imaging in the prenatal diagnosis of Apert syndrome: report of a case.

Authors: A Giancotti; V D'Ambrosio; A De Filippis; C Aliberti; G Pasquali; S Bernardo; L Manganaro
Journal: Childs Nerv Syst Date: 2014-02-25 Impact factor: 1.475

Intracranial anomalies detected by imaging studies in 30 patients with Apert syndrome.

1. Genetic overlap in Kallmann syndrome, combined pituitary hormone deficiency, and septo-optic dysplasia.

2. Comparison of ultrasound and magnetic resonance imaging in the prenatal diagnosis of Apert syndrome: report of a case.

Review 3. Epilepsy in Muenke syndrome: FGFR3-related craniosynostosis.

Review 4. Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes.

5. Diffusion Tensor Imaging and Fiber Tractography in Children with Craniosynostosis Syndromes.

Review 6. Craniosynostosis as a clinical and diagnostic problem: molecular pathology and genetic counseling.

Review 7. Brain malformation in syndromic craniosynostoses, a primary disorder of white matter: a review.

8. Brain phenotypes in two FGFR2 mouse models for Apert syndrome.

9. Brain and ventricular volume in patients with syndromic and complex craniosynostosis.

10. Novel molecular pathways elicited by mutant FGFR2 may account for brain abnormalities in Apert syndrome.