HIC2 is a novel dosage-dependent regulator of cardiac development located within the distal 22q11 deletion syndrome region.

HIC2 is a novel dosage-dependent regulator of cardiac development located within the distal 22q11 deletion syndrome region.

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RATIONALE: 22q11 deletion syndrome arises from recombination between low-copy repeats on chromosome 22. Typical deletions result in hemizygosity for TBX1 associated with congenital cardiovascular disease. Deletions distal to the typically deleted region result in a similar cardiac phenotype but lack...

תיאור מלא

מידע ביבליוגרפי
Main Authors:	Dykes, I, van Bueren, K, Ashmore, R, Floss, T, Wurst, W, Szumska, D, Bhattacharya, S, Scambler, P
פורמט:	Journal article
שפה:	English
יצא לאור:	Lippincott Williams and Wilkins 2014

פריטים דומים

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A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review
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Hearing loss in a mouse model of 22q11.2 Deletion Syndrome.
מאת: Jennifer C Fuchs, et al.
יצא לאור: (2013-01-01)

Correction: Hearing Loss in a Mouse Model of 22q11.2 Deletion Syndrome.
מאת: Jennifer C. Fuchs, et al.
יצא לאור: (2014-01-01)

Congenital cardiac defects with 22q11 deletion
מאת: Ozlem Giray, et al.
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מאת: Chih-Ping Chen, et al.
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יצא לאור: (2020-02-01)

Hematological abnormalities and 22q11.2 deletion syndrome
מאת: Rafael Fabiano Machado Rosa, et al.
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Recurrent Distal 16q Duplication and Terminal 22q Deletion: Prenatal Diagnosis and Genetic Counseling
מאת: Chih-Ping Chen, et al.
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Variability of CATCH-22 symptome complex within the framework of 22q11.2 deletion syndrome
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יצא לאור: (2021-12-01)

FAMILIAL CASE OF CHROMOSOME 22q11.2 DELETION SYNDROME
מאת: I. A. Tuzankina, et al.
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Psychiatric disorders associated with 22q11.2 deletion syndrome
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יצא לאור: (2016-06-01)

22q11.2 Deletion Syndrome: Symptoms, Diagnosis, Treatment
מאת: Leyla S. Namazova-Baranova, et al.
יצא לאור: (2016-12-01)

Neuropsychological and Language Deficits in 22q11.2 Deletion Syndrome
מאת: J Gordon Millichap, et al.
יצא לאור: (2014-07-01)

Deletion Syndrome 22q11.2: A Systematic Review
מאת: Jonathan Cortés-Martín, et al.
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Visual processing deficits in 22q11.2 Deletion Syndrome
מאת: Marjan Biria, et al.
יצא לאור: (2018-01-01)

Dopaminergic neurons in chromosome 22q11.2 deletion syndrome
מאת: Haruhisa Inoue
יצא לאור: (2021-01-01)

Genotype-phenotype correlation in 22q11.2 deletion syndrome
מאת: Michaelovsky Elena, et al.
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Prenatal diagnosis of 22q11.2 distal deletion syndrome in a fetus associated with perinatal growth restriction but no structural abnormalities
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Common variants in MMP20 at 11q22.2 predispose to 11q deletion and neuroblastoma risk
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יצא לאור: (2017-09-01)

Anterior laryngeal membrane and 22q11 deletion syndrome Membrana laríngea anterior e Síndrome de deleção 22q11
מאת: Rafael Fabiano Machado Rosa, et al.
יצא לאור: (2011-08-01)

Hypocalcemia in a patient with osteosarcoma and 22q11.2 deletion syndrome.
מאת: Mussai, F, et al.
יצא לאור: (2008)

Asymmetric crying facies associated with congenital hypoparathyroidism and 22q11 deletion
מאת: Mustafa Akçakuş, et al.
יצא לאור: (2004-04-01)

22q11.2 DELETION SYNDROME: ALGORITHM FOR THE EARLY DIAGNOSIS AND TREATMENT
מאת: Leyla S. Namazova-Baranova, et al.
יצא לאור: (2017-11-01)

Acute dystonia in a patient with 22q11.2 deletion syndrome
מאת: Konstantinos Kontoangelos, et al.
יצא לאור: (2015-09-01)

22Q11.2 deletion syndrome and psychosis: About a case
מאת: C. García-Bernal, et al.
יצא לאור: (2021-04-01)

Familial 22q11.2 deletion syndrome with autosomal dominant inheritance
מאת: Bahar Gokturk, et al.
יצא לאור: (2016-06-01)

Hypocalcemia due to 22q11.2 deletion syndrome diagnosed in adulthood
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Platybasia in 22q11.2 Deletion Syndrome Is Not Correlated with Speech Resonance
מאת: Nicole E Spruijt, et al.
יצא לאור: (2014-07-01)

Correction: Proton Magnetic Resonance Spectroscopy in 22q11 Deletion Syndrome
יצא לאור: (2011-01-01)

Correction: Proton Magnetic Resonance Spectroscopy in 22q11 Deletion Syndrome.
מאת: Fabiana da Silva Alves, et al.
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Sleep patterns and problems among children with 22q11 deletion syndrome
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Familial 22q11.2 deletion syndrome with autosomal dominant inheritance
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Hypoparathyroidism due to 22Q11 Deletion Syndrome Presenting as Acute Cardiomyopathy
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Molecular cytogenetic characterization of de novo concomitant proximal 21q deletion of 21q11.2q21.3 and distal Xp deletion of Xp22.33p22.2 due to an unbalanced X;21 translocation detected by amniocentesis
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22Q11 - PHYSICAL, COMPARATIVE AND DISEASE LOCUS MAPPING
מאת: Halford, S, et al.
יצא לאור: (1994)