The Pitt-Hopkins syndrome: Report of 16 new patients and clinical diagnostic criteria-Reference-Cited by-同舟云学术

The Pitt-Hopkins syndrome: Report of 16 new patients and clinical diagnostic criteria

Published:2011-06-10 Issue:7 Volume:155 Page:1536-1545
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Marangi Giuseppe,Ricciardi Stefania,Orteschi Daniela,Lattante Serena,Murdolo Marina,Dallapiccola Bruno,Biscione Chiara,Lecce Rosetta,Chiurazzi Pietro,Romano Corrado,Greco Donatella,Pettinato Rosa,Sorge Giovanni,Pantaleoni Chiara,Alfei Enrico,Toldo Irene,Magnani Cinzia,Bonanni Paolo,Martinez Federica,Serra Gigliola,Battaglia Domenica,Lettori Donatella,Vasco Gessica,Baroncini Anna,Daolio Cecilia,Zollino Marcella

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.34070/fullpdf

Reference20 articles.

1. Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction;Amiel;Am J Hum Genet,2007

2. Deletion 18q21.2q21.32 involving TCF4 in a boy diagnosed by CGH-array;Andrieux;Eur J Med Genet,2008

3. Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4;Brockschmidt;Hum Mol Genet,2007

4. Noradrenergic neuronal development is impaired by mutation of the proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine's curse);de Pontual;Hum Mol Genet,2003

5. Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome;de Pontual;Hum Mutat,2009

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1. Tcf4 dysfunction alters dorsal and ventral cortical neurogenesis in Pitt-Hopkins syndrome mouse model showing sexual dimorphism;Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease;2024-06

2. Expanding the phenotype in Pitt-Hopkins syndrome; description of new oral finding and dental management considerations;BMC Oral Health;2024-05-22

3. From Genotype to Phenotype of Polish Patients with Pitt–Hopkins Syndrome concerning the Quality of Life and Family Functioning;Journal of Clinical Medicine;2024-04-29

4. Complex Craniosynostosis in Pitt-Hopkins Syndrome: Case Report in Twins;Pediatric Neurosurgery;2024

5. TCF4 Mutations Disrupt Synaptic Function Through Dysregulation of RIMBP2 in Patient-Derived Cortical Neurons;Biological Psychiatry;2023-08