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Literature DB >> 728011

A syndrome of mental retardation, wide mouth and intermittent overbreathing.

D Pitt, I Hopkins.

Abstract

Entities: Disease

Mesh：

Year: 1978 PMID： 728011 DOI： 10.1111/jpc.1978.14.3.182

Source DB: PubMed Journal: Aust Paediatr J ISSN： 0004-993X

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Cited

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35 in total

Review 1. Impact of TCF4 on the genetics of schizophrenia.

Authors: Leonhard Lennertz; Boris B Quednow; Jens Benninghoff; Michael Wagner; Wolfgang Maier; Rainald Mössner
Journal: Eur Arch Psychiatry Clin Neurosci Date: 2011-09-20 Impact factor: 5.270

2. Repurposing the Dihydropyridine Calcium Channel Inhibitor Nicardipine as a Na_v1.8 Inhibitor In Vivo for Pitt Hopkins Syndrome.

Authors: Sean Ekins; Ana C Puhl; Audrey Davidow
Journal: Pharm Res Date: 2020-06-11 Impact factor: 4.200

3. Pitt-Hopkins Mouse Model has Altered Particular Gastrointestinal Transits In Vivo.

Authors: Vladimir Grubišić; Andrew J Kennedy; J David Sweatt; Vladimir Parpura
Journal: Autism Res Date: 2015-02-26 Impact factor: 5.216

Review 4. Pitt-Hopkins Syndrome: A Review of Current Literature, Clinical Approach, and 23-Patient Case Series.

Authors: Kimberly Goodspeed; Cassandra Newsom; Mary Ann Morris; Craig Powell; Patricia Evans; Sailaja Golla
Journal: J Child Neurol Date: 2018-01-10 Impact factor: 1.987

5. Pitt-Hopkins syndrome: report of a case with a TCF4 gene mutation.

Authors: Grazia Taddeucci; Alice Bonuccelli; Ilaria Mantellassi; Alessandro Orsini; Enrico Tarantino
Journal: Ital J Pediatr Date: 2010-02-02 Impact factor: 2.638

6. Associations between TCF4 gene polymorphism and cognitive functions in schizophrenia patients and healthy controls.

Authors: Xianghua Zhu; Huang Gu; Zhen Liu; Zhansheng Xu; Xiongying Chen; Xiaochen Sun; Jinguo Zhai; Qiumei Zhang; Min Chen; Keqin Wang; Xiaoxiang Deng; Feng Ji; Chuanxin Liu; Jun Li; Qi Dong; Chuansheng Chen
Journal: Neuropsychopharmacology Date: 2012-11-09 Impact factor: 7.853

A syndrome of mental retardation, wide mouth and intermittent overbreathing.

Review 1. Impact of TCF4 on the genetics of schizophrenia.

2. Repurposing the Dihydropyridine Calcium Channel Inhibitor Nicardipine as a Na_v1.8 Inhibitor In Vivo for Pitt Hopkins Syndrome.

3. Pitt-Hopkins Mouse Model has Altered Particular Gastrointestinal Transits In Vivo.

Review 4. Pitt-Hopkins Syndrome: A Review of Current Literature, Clinical Approach, and 23-Patient Case Series.

5. Pitt-Hopkins syndrome: report of a case with a TCF4 gene mutation.

6. Associations between TCF4 gene polymorphism and cognitive functions in schizophrenia patients and healthy controls.

7. The role of the TCF4 gene in the phenotype of individuals with 18q segmental deletions.

8. The E-protein Tcf4 interacts with Math1 to regulate differentiation of a specific subset of neuronal progenitors.

Review 9. Epilepsy in patients with Angelman syndrome.

Review 10. Pitt-Hopkins Syndrome and Differential Diagnosis: A Molecular and Clinical Challenge.

A syndrome of mental retardation, wide mouth and intermittent overbreathing.

Review 1. Impact of TCF4 on the genetics of schizophrenia.

2. Repurposing the Dihydropyridine Calcium Channel Inhibitor Nicardipine as a Nav1.8 Inhibitor In Vivo for Pitt Hopkins Syndrome.

3. Pitt-Hopkins Mouse Model has Altered Particular Gastrointestinal Transits In Vivo.

Review 4. Pitt-Hopkins Syndrome: A Review of Current Literature, Clinical Approach, and 23-Patient Case Series.

5. Pitt-Hopkins syndrome: report of a case with a TCF4 gene mutation.

6. Associations between TCF4 gene polymorphism and cognitive functions in schizophrenia patients and healthy controls.

7. The role of the TCF4 gene in the phenotype of individuals with 18q segmental deletions.

8. The E-protein Tcf4 interacts with Math1 to regulate differentiation of a specific subset of neuronal progenitors.

Review 9. Epilepsy in patients with Angelman syndrome.

Review 10. Pitt-Hopkins Syndrome and Differential Diagnosis: A Molecular and Clinical Challenge.

2. Repurposing the Dihydropyridine Calcium Channel Inhibitor Nicardipine as a Na_v1.8 Inhibitor In Vivo for Pitt Hopkins Syndrome.