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Schu-Rern Chern Selected Research

Trisomy 13 Syndrome

1/2022Application of quantitative fluorescent polymerase chain reaction analysis for the rapid confirmation of trisomy 13 of maternal origin in a pregnancy with fetal holoprosencephaly, cyclopia, polydactyly, omphalocele and cell culture failure.
9/2021Rapid diagnosis of trisomy 13 of maternal origin by quantitative fluorescent polymerase chain reaction analysis in a pregnancy with fetal holoprosencephaly, premaxillary agenesis, postaxial polydactyly of left hand and overriding aorta.
12/2017Prenatal diagnosis of low-level mosaicism for trisomy 13 at amniocentesis associated with a favorable outcome.

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Schu-Rern Chern Research Topics

Disease

29Uniparental Disomy
07/2022 - 09/2010
16Down Syndrome (Down's Syndrome)
07/2022 - 05/2003
8Trisomy (Trisomies)
07/2022 - 12/2010
5Trisomy 18 Syndrome
07/2022 - 06/2011
5Fetal Growth Retardation (Intrauterine Growth Retardation)
01/2022 - 06/2010
4Ring Chromosomes (Ring Chromosome)
03/2022 - 06/2011
3Trisomy 13 Syndrome
01/2022 - 12/2017
3Oligohydramnios
09/2020 - 12/2013
2Pre-Eclampsia (Preeclampsia)
03/2022 - 01/2022
2Inflammation (Inflammations)
01/2022 - 05/2020
2Aneuploidy (Aneuploid)
07/2021 - 03/2012
2Chromosome Aberrations (Chromosome Abnormalities)
05/2021 - 01/2020
2Ventricular Heart Septal Defects (Ventricular Septal Defect)
09/2019 - 06/2016
2Isochromosomes
12/2017 - 02/2015
2Attention Deficit Disorder with Hyperactivity (Attention Deficit Hyperactivity Disorder)
12/2016 - 12/2008
2Hypertelorism
06/2013 - 06/2003
2Polyhydramnios
06/2013 - 12/2010
2Osteogenesis Imperfecta (Lobstein Disease)
06/2012 - 06/2012
2Chromosome Deletion (Deletion, Chromosome)
06/2011 - 12/2010
1Sunburn
01/2022
1Spontaneous Abortion (Miscarriage)
09/2020
1Squamous Cell Carcinoma (Epidermoid Carcinoma)
05/2020
1Erythema
05/2020
1Basal Cell Carcinoma (Rodent Ulcer)
05/2020
115q24 Microdeletion
05/2020
1Mucopolysaccharidosis II (Hunter Syndrome)
12/2019
1Cardiomegaly (Heart Hypertrophy)
09/2019
1Pericardial Effusion
09/2019
1Triploidy
12/2018
1Duplication 15q11-q13 Syndrome
10/2018
1Spinocerebellar Ataxias (Spinocerebellar Ataxia)
02/2018
1Obesity
12/2016
1Intellectual Disability (Idiocy)
12/2016
1Language Development Disorders (Semantic-Pragmatic Disorder)
06/2016
1Microcephaly
02/2014
1Craniosynostoses (Craniosynostosis)
02/2014
1Epilepsy (Aura)
09/2013
1Rhabdomyoma
09/2013
1Tuberous Sclerosis (Bourneville's Disease)
09/2013
1Acrocephalosyndactylia (Apert Syndrome)
06/2013
1Syndactyly (Polysyndactyly)
06/2013
1Cysts
06/2013
1Type IV Osteogenesis Imperfecta
03/2013
1Inborn Genetic Diseases (Disease, Hereditary)
01/2013
1tetrasomy 18p Chromosome 18
12/2012
1Type 2 Diabetes Mellitus (MODY)
12/2012
1Pyelectasis
09/2012
1Fetal Death
09/2012
1Congenital chloride diarrhea
12/2010
1Microvillus inclusion disease
12/2010
1Diarrhea
12/2010
1Ascites
06/2010
1Cytomegalovirus Infections (Inclusion Disease)
06/2010
1Echogenic Bowel
06/2010
1Oppositional Defiant Disorder
12/2008
1Neoplasms (Cancer)
01/2007
1Breast Neoplasms (Breast Cancer)
01/2007
1Fetal Distress
02/2005
1Congenital Diaphragmatic Hernias
01/2004

Drug/Important Bio-Agent (IBA)

46Genetic Markers (Genetic Marker)IBA
07/2022 - 09/2003
13dimemorfan (AT 17)IBA
07/2022 - 06/2010
12DNA (Deoxyribonucleic Acid)IBA
07/2022 - 06/2010
6Pregnancy-Associated Plasma Protein-A (PAPP-A)IBA
03/2022 - 02/2014
5dichlorobis(azomycin)platinum IIIBA
07/2022 - 10/2017
3inhibin AIBA
03/2013 - 06/2011
3Estriol (Epiestriol)IBA
03/2013 - 06/2011
3Fetal Proteins (Fetoprotein)IBA
03/2013 - 06/2011
3Chorionic Gonadotropin (Human Chorionic Gonadotropin)FDA LinkGeneric
03/2013 - 06/2011
3alpha-Fetoproteins (alpha-Fetoprotein)IBA
02/2006 - 05/2003
2Intercellular Signaling Peptides and Proteins (Growth Factors)IBA
03/2022 - 11/2021
2OligonucleotidesIBA
12/2017 - 09/2012
2alpha2 Subunit Collagen Type IIBA
03/2013 - 06/2012
2Biomarkers (Surrogate Marker)IBA
01/2013 - 09/2012
2Codon (Codons)IBA
01/2007 - 08/2002
1InflammasomesIBA
01/2022
1Cytochrome P-450 CYP1A2 (CYP1A2)IBA
05/2020
1Cholesterol Side-Chain Cleavage Enzyme (CYP11A1)IBA
05/2020
1Cytochrome P-450 CYP1A1 (CYP1A1)IBA
05/2020
1Galectin 3 (LGALS3)IBA
05/2020
1GlycosaminoglycansIBA
12/2019
1trans-sodium crocetinate (crocetin)IBA
09/2013
1Anticonvulsants (Antiepileptic Drugs)IBA
09/2013
1ProteomeIBA
09/2012
1Ataxin-3IBA
09/2012
1Serum Amyloid P-ComponentIBA
09/2012
1Proteins (Proteins, Gene)FDA Link
09/2012
1Galectin 1 (LGALS1)IBA
09/2012
1Myelin ProteinsIBA
09/2012
1Diphosphonates (Bisphosphonates)IBA
06/2012
1SodiumIBA
12/2010
1Cytochrome P-450 CYP2D6 (CYP2D6)IBA
12/2008
1ImmunosorbentsIBA
01/2007
1EnzymesIBA
01/2007
1LeptinIBA
01/2007
1Leptin ReceptorsIBA
01/2007

Therapy/Procedure

3Cesarean Section (Caesarean Section)
09/2020 - 05/2003
2Ligation
07/2022 - 03/2012
1Colonic Pouches (S Pouch)
06/2013
1Glycemic Control
12/2012
1Therapeutics
12/2012