TITF1 Screening in Human Congenital Diaphragmatic Hernia (CDH)
Abstract
:1. Introduction
2. Materials and Methods
2.1. Immunohistochemistry: Fetuses
2.2. Molecular Genetics: CDH Patients
3. Results
3.1. Fetuses
3.2. CDH Patients
4. Discussion
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Acknowledgments
Conflicts of Interest
References
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Male/Female | Sporadic/Familial | Disease during Pregnancy | Left/Right Broad | Pulmonary Hypoplasia | Associated Anomalies | Survivor | |
---|---|---|---|---|---|---|---|
CDH01 | M | Familial | - | Right | Severe | - | not |
CDH02 | M | Sporadic | - | Right | Severe | Pectus excavatum | yes |
CDH03 | F | Familial | - | Left | Mild | - | |
CDH04 | M | Familial | - | Left | Mild | - | - |
CDH05 | F | Familial | - | Left | Mild | Tricuspid regurgitation | yes |
CDH06 | M | Sporadic | - | Left | Mild | - | yes |
CDH07 | F | Sporadic | - | Left | Mild | - | yes |
CDH08 | F | Sporadic | - | Left | Mild | - | yes |
CDH09 | F | Sporadic | - | Left | Mild | - | yes |
CDH10 | M | Sporadic | - | Left | Mild | ||
CDH11 | M | Sporadic | - | Right | Mild | - | yes |
CDH12 | F | Sporadic | - | Left | Mild | - | - |
CDH13 | M | Sporadic | - | Left | Mild | - | yes |
CDH14 | M | Sporadic | - | Left | Mild | yes | |
CDH15 | F | Sporadic | - | Right | Severe | Pectus excavatum | yes |
CDH16 | M | Sporadic | - | Left | Mild | yes |
Name | Type | Sequence 5′→3′ |
---|---|---|
hTiTF1 exIIF | Exon II PCR/Seq Forward | TGG CTG CCT AAA ACC TG |
hTiTF1 exIIR | Exon II PCR/Seq Reverse | GCC GCC CTC CCT GAT GC |
hTiTF1 exIIF2 | Exon II Seq Forward | GGA AAG CTA CAA GAA AGT GGG |
hTiTF1 exIIR2 | Exon II Seq Reverse | CTG TTC CTC ATG GTG TCC TGG |
hTiTF1 exIIPCRUP | Exon II PCR/Seq Forward | GAG GAC TCG GTC CAC TCC GTT AC |
hTiTF1 exIIPCRDw | Exon II PCR/Seq Reverse | AGC GCT ACC AAG TGC CTG TTC TTG |
hTiTF1 exIIIF | Exon III PCR/Seq Forward | AGG GTT GGG GCT GTG AG |
hTiTF1 exIIIR | Exon III PCR/Seq Reverse | GGA TGG TGG TCT GTG TGG |
hTiTF1 exIIIF2 | Exon III Seq Forward | ATG GCG CGG AAA ACA GG |
hTiTF1 exIIIR2 | Exon III Seq Reverse | GCG GTG GAT GGT GGT CA |
hTiTF1 exIIIF3 | Exon III Seq Forward | GCT TCA AGC AAC AGA AGT ACC |
hTiTF1 exIIIR3 | Exon III Seq Reverse | ACG GTT TGC CGT CTT TCA CC |
hTiTF1 exIIIF4 | Exon III Seq Forward | AAC AGG CTC AGC AGC AGT CG |
hTiTF1 exIIIR4 | Exon III Seq Reverse | GTC AGG TGG ATC ATG CTG G |
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Gulino, M.E.; Martucciello, G.; Biffali, E.; Morbini, P.; Patti, R.; Borra, M.; Scuderi, M.G. TITF1 Screening in Human Congenital Diaphragmatic Hernia (CDH). Children 2022, 9, 1108. https://doi.org/10.3390/children9081108
Gulino ME, Martucciello G, Biffali E, Morbini P, Patti R, Borra M, Scuderi MG. TITF1 Screening in Human Congenital Diaphragmatic Hernia (CDH). Children. 2022; 9(8):1108. https://doi.org/10.3390/children9081108
Chicago/Turabian StyleGulino, Maria Eugenia, Giuseppe Martucciello, Elio Biffali, Patrizia Morbini, Roberta Patti, Marco Borra, and Maria Grazia Scuderi. 2022. "TITF1 Screening in Human Congenital Diaphragmatic Hernia (CDH)" Children 9, no. 8: 1108. https://doi.org/10.3390/children9081108