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Elaine H Zackai Selected Research

Shprintzen VCF syndrome

8/201422q11.2 Deletion syndrome and obstructive sleep apnea.
6/2014Psychiatric disorders from childhood to adulthood in 22q11.2 deletion syndrome: results from the International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome.
3/2014Contribution of congenital heart disease to neuropsychiatric outcome in school-age children with 22q11.2 deletion syndrome.
12/2009Affective disorders and other psychiatric diagnoses in children and adolescents with 22q11.2 Deletion Syndrome.
5/2009CHARGE (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies/deafness) syndrome and chromosome 22q11.2 deletion syndrome: a comparison of immunologic and nonimmunologic phenotypic features.
1/2009Alterations in midline cortical thickness and gyrification patterns mapped in children with 22q11.2 deletions.
4/2008Sclerocornea associated with the chromosome 22q11.2 deletion syndrome.
9/2007Primary amenorrhea and absent uterus in the 22q11.2 deletion syndrome.
4/2006Malignancy in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).
8/2005Autism spectrum disorders and symptoms in children with molecularly confirmed 22q11.2 deletion syndrome.
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Elaine H Zackai Research Topics

Disease

9Craniosynostoses (Craniosynostosis)
07/2015 - 02/2002
6Mental Retardation (Idiocy)
08/2015 - 03/2005
5Heart Diseases (Heart Disease)
10/2014 - 12/2003
5DiGeorge Syndrome (Syndrome, DiGeorge)
01/2009 - 10/2003
4Congenital Heart Defects (Congenital Heart Defect)
12/2012 - 12/2003
4Hearing Loss (Hearing Impairment)
12/2012 - 12/2007
3Muscle Hypotonia (Hypotonia)
02/2015 - 12/2012
3Cleft Palate (Palate, Cleft)
05/2009 - 12/2003
3Hypocalcemia
05/2009 - 09/2007
2Acrocephalosyndactylia (Apert Syndrome)
07/2015 - 12/2006
2Synostosis
07/2015 - 08/2008
2Epilepsy (Aura)
10/2014 - 08/2004
2Hirschsprung Disease (Hirschsprung's Disease)
10/2014 - 10/2010
2Hypospadias
10/2014 - 12/2002
2Schizophrenia (Dementia Praecox)
06/2014 - 12/2009
2Macrocephaly
10/2013 - 06/2011
2Neoplasms (Cancer)
08/2013 - 08/2007
2Tetrasomy
12/2012 - 12/2012
2Seizures (Seizure)
12/2012 - 10/2010
2Vesico-Ureteral Reflux (Vesicoureteral Reflux)
10/2010 - 12/2002
2Trisomy (Trisomies)
04/2010 - 12/2003
2Mood Disorders (Mood Disorder)
12/2009 - 01/2009
2Syndactyly (Polysyndactyly)
08/2009 - 12/2006
2Developmental Disabilities (Developmental Disability)
08/2009 - 03/2005
2Coloboma
05/2009 - 12/2003
2CHARGE Syndrome
05/2009 - 12/2003
2Hypoparathyroidism
03/2008 - 02/2004
2Chromosome Aberrations (Chromosome Abnormalities)
10/2005 - 12/2003
1Hypertelorism
11/2015
1Umbilical Hernia (Omphalocele)
11/2015
1Down Syndrome (Down's Syndrome)
10/2015
1Cardiac Edema
09/2015
1Musculoskeletal Abnormalities
08/2015
1Meningocele
02/2015
1Hajdu-Cheney Syndrome (Multicentric Osteolysis)
02/2015
1Neurologic Manifestations (Neurological Manifestations)
02/2015
1Microcephaly
10/2014
1Obstructive Sleep Apnea
08/2014
1Hypoplastic Left Heart Syndrome
04/2014
1Obesity
12/2013
1Hypothyroidism
12/2013
1Prader-Willi Syndrome (Syndrome, Prader-Willi)
12/2013
1Fraser Syndrome
12/2013
1Hypogonadism (Hypergonadotropic Hypogonadism)
12/2013
1Pathologic Constriction (Stenosis)
12/2013
1Pulmonary Atresia (Pulmonary Valve Atresia)
12/2013
1Birth Weight (Birth Weights)
10/2013
1Polyhydramnios
10/2013
1Alopecia (Baldness)
12/2012
1Isochromosomes
12/2012
1Diaphragmatic Hernia
12/2012
1Thrombocytopenia (Thrombopenia)
07/2012
1Disorders of Sex Development (Intersexuality)
12/2011
1Tetralogy of Fallot (Fallot Tetralogy)
10/2011
1Aneuploidy (Aneuploid)
10/2011
1Proteus Syndrome
08/2011
1Kidney Diseases (Kidney Disease)
10/2010
1Constipation
10/2010
1Facial Asymmetry (Hemifacial Microsomia)
12/2009
1Bipolar Disorder (Mania)
12/2009
1Chromosome Deletion (Deletion, Chromosome)
12/2009
1Polydactyly (Polydactylism)
08/2009
1Microphthalmos
08/2009
1Clubfoot (Talipes Equinovarus)
08/2009

Drug/Important Bio-Agent (IBA)

15Shprintzen VCF syndromeIBA
08/2014 - 10/2003
4Kabuki syndromeIBA
08/2015 - 12/2003
3Retinaldehyde (Retinal)IBA
11/2008 - 12/2003
2Phosphotransferases (Kinase)IBA
10/2015 - 08/2011
2Mowat-Wilson syndromeIBA
07/2015 - 10/2014
2alpha-Fetoproteins (AFP)IBA
08/2013 - 08/2003
2Pallister Killian syndromeIBA
12/2012 - 12/2012
2DNA (Deoxyribonucleic Acid)IBA
08/2011 - 08/2007
2Hereditary renal agenesisIBA
10/2010 - 12/2002
2Conotruncal cardiac defectsIBA
12/2009 - 02/2004
2Nonsense Codon (Nonsense Mutation)IBA
11/2008 - 02/2004
2Type 2 Fibroblast Growth Factor Receptor (Fibroblast Growth Factor Receptor 2)IBA
12/2006 - 02/2002
1AntigensIBA
11/2015
1calponinIBA
11/2015
1Brachycephalofrontonasal dysplasiaIBA
11/2015
1Tyrosine (L-Tyrosine)FDA Link
10/2015
1Messenger RNA (mRNA)IBA
09/2015
1Lateral meningocele syndromeIBA
02/2015
1Growth Hormone (Somatotropin)IBA
12/2013
1Staphylococcal Protein A (A, Protein)IBA
12/2013
1Right ventricle hypoplasiaIBA
12/2013
112p trisomy Chromosome 12IBA
12/2012
1Thrombocytopenia Robin sequenceIBA
07/2012
1Ablepharon macrostomia syndromeIBA
12/2011
1Chromosome 17 trisomyIBA
10/2011
1Legius syndromeIBA
06/2011
1Carbon MonoxideIBA
04/2010
1AnotiaIBA
12/2009
1Emanuel syndromeIBA
08/2009

Therapy/Procedure

4Sutures (Suture)
07/2015 - 02/2002
2Tracheostomy
04/2015 - 01/2003
2Cardiopulmonary Bypass (Heart-Lung Bypass)
07/2014 - 12/2003
1Transplants (Transplant)
07/2014
1Fontan Procedure (Fontan Operation)
04/2014
1Enteral Nutrition (Feeding, Tube)
10/2013
1Amputation
08/2009