Associate Professor, Pediatrics, Perelman School of Medicine

Pediatric Gastroenterology

Kathleen M. Loomes, MD is an expert in the field of Pediatric Gastroenterology. She graduated from University of Texas Southwestern Medical School. She received 1 awards: "Regional Top Doctor". Kathleen Loomes is also a published doctor. She has 41 paper published. The most recent paper is: Structural organisation of human bile-salt-activated lipase probed by limited proteolysis and expression of a recombinant truncated variant.

Publications

---

• Early Impact of Fontan Operation on Enteric Protein Loss.
• Compound heterozygous mutations in NEK8 in siblings with end-stage renal Disease with hepatic and cardiac anomalies.
• Jagged1 (JAG1): Structure, expression, and Disease associations.
• Exome sequencing reveals compound heterozygous mutations in ATP8B1 in a JAG1/NOTCH2 mutation-negative patient with clinically diagnosed Alagille syndrome.
• Heterozygous Deletion of FOXA2 Segregates with Disease in a Family with Heterotaxy, Panhypopituitarism, and Biliary Atresia.
• Baseline Analysis of a Young Alpha-1-AT Deficiency Liver Disease Cohort Reveals Frequent Portal Hypertension.
• Total serum bilirubin predicts fat-soluble vitamin deficiency better than serum bile acids in infants with Biliary atresia.
• A challenging Case of Focal Extrahepatic Duct Obstruction/Hypoplasia in Alagille Syndrome.
• Use of corticosteroids after hepatoportoenterostomy for bile drainage in infants with Biliary atresia: the START randomized clinical trial.
• Replication of a GWAS signal in a Caucasian population implicates ADD3 in susceptibility to Biliary atresia.
• Clinical utility gene card for: Alagille Syndrome (ALGS).
• Identification of a prenatal profile of Cornelia de Lange syndrome (CdLS): A review of 53 CdLS pregnancies.
• Alagille syndrome in a Vietnamese cohort: Mutation analysis and assessment of facial features.
• Renal anomalies in Alagille syndrome: A Disease-defining feature.
• Pathologic lower extremity fractures in children with Alagille syndrome.
• Medical management of Alagille syndrome.
• Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis.
• Murine Jagged1/Notch signaling in the second heart field orchestrates Fgf8 expression and tissue-tissue interactions during outflow tract development.
• Ductal malformation and pancreatitis in mice caused by conditional Jag1 deletion.
• Bile duct proliferation in Jag1/fringe heterozygous mice identifies candidate modifiers of the Alagille syndrome hepatic phenotype.
• Endothelial expression of the Notch ligand Jagged1 is required for vascular smooth muscle development.
• A 9-month-old girl with chronic diarrhea.
• A 12-year-old boy with progressive dysphagia.
• Dll3 and Notch1 genetic interactions model axial segmental and craniofacial malformations of human birth defects.
• Bile duct proliferation in liver-specific Jag1 conditional knockout mice: effects of gene dosage.
• A novel variant of Inpp5f is imprinted in brain, and its expression is correlated with differential methylation of an internal CpG island.
• Characterization of Notch receptor expression in the developing mammalian heart and liver.
• Supernumerary digital flexion creases: an additional clinical manifestation of Alagille syndrome.
• Facial features in Alagille syndrome: specific or cholestasis facies?
• Notch1 and Jagged1 expression by the developing pulmonary vasculature.
• Microarray Data Reveal Relationship between Jag1 and Ddr1 in Mouse Liver.
• Cranial neural crest ablation of Jagged1 recapitulates the craniofacial phenotype of Alagille syndrome patients.
• NOTCH2 mutations in Alagille syndrome.
• Evaluation of iron overload by single voxel MRS measurement of liver T2.
• Causes of death and autopsy findings in a large study cohort of individuals with Cornelia de Lange syndrome and review of the literature.
• Jagged1 is a competitive inhibitor of Notch signaling in the embryonic pancreas.
• Recent advances in Biliary atresia: prospects for novel therapies.
• Translin-associated factor X is post-transcriptionally regulated by its partner protein TB-RBP, and both are essential for normal cell proliferation.
• The expression of Jagged1 in the developing mammalian heart correlates with cardiovascular Disease in Alagille syndrome.
• Structural organisation of human bile-salt-activated lipase probed by limited proteolysis and expression of a recombinant truncated variant.

Schools

---

• University of Texas Southwestern Medical Center At Dallas

• Johns Hopkins University

• Children39s Hospital Of Philadelphia

Procedures Preformed

---

• Colonoscopy, Proctosigmoidoscopy, and Sigmoidoscopy

Conditions Treated

---

• Anemia
• Biliary Atresia
• Cholecystitis and Gallstones
• Crohn's Disease (Regional Enteritis)
• View All

Doctors Specialties

---

• Pediatric Gastroenterology
• Pediatric Transplant Hepatology

Accepted Insurances

---

Awards

---

• Regional Top Doctor

Education

---

• Children's Hospital of Philadelphia
• Johns Hopkins University
• University of Texas Southwestern Medical School

Helpful Reviews

---

Give Anonymous Review

Similar Doctors

---

	Dr. Meena Thayu, MD This Doctor is OpenDoctor Recommended.
	Dr. Nicholas A. Stettler, MD This Doctor is OpenDoctor Recommended.
	Dr. Joshua R. Friedman, MD This Doctor is OpenDoctor Recommended.
	Raman R. Sreedharan, MB This Doctor is OpenDoctor Recommended.
	Dr. Melissa N. Weidner, MD
	Dr. Marianne V. Augustine, MD This Doctor is OpenDoctor Recommended.
	Dr. Janice A. Kelly, MD This Doctor is OpenDoctor Recommended.
	Dr. Rose C. Graham-Maar, MD
	Dr. Ritu Verma, MD
	Dr. Robert N. Baldassano, MD This Doctor is OpenDoctor Recommended. This doctor has more publications
	Dr. Petar Mamula, MD This Doctor is OpenDoctor Recommended.
	Dr. Stephanie S. Appleman, MD
	Dr. Tracie Wong, MD This Doctor is OpenDoctor Recommended.
	Dr. Natalie Terry, MD This Doctor is OpenDoctor Recommended.
	Dr. Maria R. Mascarenhas, MD This Doctor is OpenDoctor Recommended.
	Dr. Henry C. Lin, MD
	Dr. Elizabeth B. Rand, MD This Doctor is OpenDoctor Recommended. This doctor has more publications
	Dr. Naim Alkhouri, MD This Doctor is OpenDoctor Recommended.
	Dr. Eric S. Maller, MD
	Dr. Jonathan A. Flick, MD
	Dr. David A. Blanco, MD This Doctor is OpenDoctor Recommended.

---

Doctor Directory | TOS | twitter | FB | Angel | blog