Elaine H Zackai Selected Research

DiGeorge Syndrome (Syndrome, DiGeorge)

6/2022	Surgical insights and management in patients with the 22q11.2 deletion syndrome.
11/2021	Chromatin Modifications in 22q11.2 Deletion Syndrome.
1/2020	Pathogenic variants in CDC45 on the remaining allele in patients with a chromosome 22q11.2 deletion result in a novel autosomal recessive condition.
12/2018	Olfactory deficits and psychosis-spectrum symptoms in 22q11.2 deletion syndrome.
10/2018	The impact of hypocalcemia on full scale IQ in patients with 22q11.2 deletion syndrome.
10/2018	22q and two: 22q11.2 deletion syndrome and coexisting conditions.
1/2016	22q11.2 duplication syndrome: elevated rate of autism spectrum disorder and need for medical screening.
2/2015	Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome.
4/2008	Sclerocornea associated with the chromosome 22q11.2 deletion syndrome.
3/2008	Parathyroid hormone reserve in 22q11.2 deletion syndrome.

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Elaine H Zackai Research Topics

Disease

11	DiGeorge Syndrome (Syndrome, DiGeorge) 06/2022 - 10/2003
9	Craniosynostoses (Craniosynostosis) 01/2021 - 02/2002
5	Congenital Heart Defects (Congenital Heart Defect) 01/2018 - 12/2003
4	Intellectual Disability (Idiocy) 01/2021 - 03/2008
3	Megalencephaly 10/2021 - 11/2009
3	Synostosis 01/2019 - 08/2008
3	Neoplasms (Cancer) 01/2018 - 08/2007
2	Cleft Palate (Palate, Cleft) 11/2020 - 01/2020
2	Pierre Robin Syndrome (Syndrome, Pierre Robin) 01/2020 - 01/2003
2	Neurodevelopmental Disorders 01/2020 - 01/2018
2	Autistic Disorder (Autism) 01/2019 - 01/2016
2	Hypocalcemia 10/2018 - 03/2008
2	Muscle Hypotonia (Hypotonia) 01/2018 - 10/2013
2	Hearing Loss (Hearing Impairment) 01/2018 - 12/2007
2	Autism Spectrum Disorder 01/2018 - 01/2016
2	Polyhydramnios 05/2017 - 10/2013
2	Hypoplastic Left Heart Syndrome 01/2016 - 04/2014
2	Hypertelorism 11/2015 - 10/2006
2	Acrocephalosyndactylia (Apert Syndrome) 07/2015 - 12/2006
2	Craniofacial Dysostosis (Crouzon Disease) 04/2015 - 08/2008
2	Kabuki syndrome 07/2011 - 12/2003
2	Syndactyly (Polysyndactyly) 08/2009 - 12/2006
2	Strabismus (Squint) 04/2008 - 10/2006
1	Gastroesophageal Reflux (GERD) 06/2022
1	And Kidney Dysplasia-Hypoplasia Cleft Palate-Cryptorchidism Ear-Eye Anomalies Hirschsprung Disease Skeletal Malformations Ectodermal Dysplasia Retardation Brain Anomalies 01/2022
1	Ichthyosis follicularis atrichia photophobia syndrome 01/2022
1	Brain Diseases (Brain Disorder) 10/2021
1	Epilepsy (Aura) 10/2021
1	Seizures (Absence Seizure) 10/2021
1	Dyskinesias (Dyskinesia) 10/2021
1	Contracture 10/2021
1	De Lange Syndrome (Cornelia De Lange Syndrome) 01/2021
1	KBG syndrome 01/2021
1	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders) 01/2021
1	Schizophrenia (Dementia Praecox) 01/2021
1	Microcephaly 12/2020
1	Snijders Blok-Campeau syndrome 10/2020
1	Metabolic Bone Diseases (Osteopenia) 01/2020
1	Myofibromatosis 01/2020
1	Anorectal Malformations 01/2020
1	type 1 Stickler syndrome 01/2020
1	Myofibroma 01/2020
1	Anodontia (Hypodontia) 01/2020
1	Aneurysm (Aneurysms) 01/2020
1	Premature Aging 01/2020
1	Genomic Instability 10/2019
1	Otitis 01/2019
1	Psychotic Disorders (Schizoaffective Disorder) 12/2018
1	Velopharyngeal Insufficiency 12/2018
1	von Willebrand Diseases (von Willebrand's Disease) 10/2018
1	Glucosephosphate Dehydrogenase Deficiency 10/2018
1	CHARGE Syndrome 10/2018
1	1.35-Mb Chromosome 1q21.1 Deletion Syndrome 10/2018
1	Cystic Fibrosis (Mucoviscidosis) 10/2018
1	Inflammation (Inflammations) 01/2018
1	Cohen syndrome 01/2018
1	Odontogenic Tumors (Dental Tissue Neoplasm) 01/2018
1	Cardiac Arrhythmias (Arrythmia) 01/2018

Drug/Important Bio-Agent (IBA)

10	Proteins (Proteins, Gene)FDA Link 01/2020 - 02/2002
4	Retinaldehyde (Retinal)IBA 01/2018 - 12/2003
3	Transcription Factors (Transcription Factor)IBA 01/2022 - 04/2005
3	ChromatinIBA 11/2021 - 07/2011
3	DNA (Deoxyribonucleic Acid)IBA 01/2020 - 08/2007
2	DNA HelicasesIBA 10/2020 - 10/2019
2	EnzymesIBA 10/2018 - 08/2011
2	CalciumIBA 10/2018 - 03/2008
2	Fibroblast Growth Factor Receptors (Fibroblast Growth Factor Receptor)IBA 01/2018 - 12/2006
2	CalponinsIBA 11/2015 - 02/2015
2	Phosphotransferases (Kinase)IBA 11/2015 - 08/2011
2	AntigensIBA 11/2015 - 02/2015
2	alpha-Fetoproteins (alpha-Fetoprotein)IBA 08/2013 - 08/2003
2	Nonsense Codon (Nonsense Mutation)IBA 11/2008 - 02/2004
2	Type 2 Fibroblast Growth Factor Receptor (Fibroblast Growth Factor Receptor 2)IBA 12/2006 - 02/2002
1	Peptide Hydrolases (Proteases)FDA Link 01/2022
1	SterolsIBA 01/2022
1	Topiramate (Topamax)FDA LinkGeneric 10/2021
1	Calcium Channels (Calcium Channel)IBA 10/2021
1	Adenosine Triphosphate (ATP)IBA 01/2021
1	Retinoic Acid 4-Hydroxylase (CYP26B1)IBA 01/2021
1	MannosidasesIBA 01/2021
1	TubulinIBA 12/2020
1	Imatinib Mesylate (Gleevec)FDA Link 01/2020
1	Platelet-Derived Growth Factor beta Receptor (Receptor, Platelet Derived Growth Factor beta)IBA 01/2020
1	Receptor Protein-Tyrosine Kinases (Tyrosine Kinase Receptors)IBA 01/2020
1	SulfurIBA 10/2019
1	IronIBA 10/2019
1	Histone Acetyltransferases (Histone Acetyltransferase)IBA 01/2019
1	Catechol O-Methyltransferase (Methyltransferase, Catechol)IBA 12/2018
1	Biomarkers (Surrogate Marker)IBA 12/2018
1	Blood Coagulation Factors (Coagulation Factor)IBA 10/2018
1	IonsIBA 10/2018

Therapy/Procedure

5	Sutures (Suture) 01/2019 - 02/2002
3	Cardiopulmonary Bypass (Heart-Lung Bypass) 01/2018 - 12/2003
3	Tracheostomy 05/2017 - 01/2003
2	Operative Surgical Procedures 06/2022 - 01/2019
2	Airway Management 01/2020 - 01/2003
1	Herniorrhaphy 06/2022
1	Gastrostomy 06/2022
1	Adenoidectomy 11/2020
1	Tonsillectomy 11/2020