Microphthalmia Syndromic 9 Latest Advances

Value of Dual-Energy Computed Tomography for Detecting Small Pancreatic Ductal Adenocarcinoma.

Journal: Pancreas

Published: April 26, 2023

Multifaceted role for p53 in pancreatic cancer suppression.

Journal: Proceedings of the National Academy of Sciences of the United States of America

Published: February 27, 2023

Expanding the phenotype of STRA6-related disorder to include left ventricular non-compaction.

Journal: Molecular genetics & genomic medicine

Published: May 04, 2020

Microphthalmia Syndrome 9: Case Report of a Newborn Baby with Pulmonary Hypoplasia, Diaphragmatic Eventration, Microphthalmia, Cardiac Defect and Severe Primary Pulmonary Hypertension.

Journal: The American journal of case reports

Published: March 19, 2019

A rare mutation of retinoic acid receptor-β associated with lethal neonatal Matthew-Wood syndrome.

Journal: Clinical dysmorphology

Published: November 28, 2018

Novel STRA6 null mutations in the original family described with Matthew-Wood syndrome.

Journal: American journal of medical genetics. Part A

Published: October 04, 2017

Vitamin A Transport and Cell Signaling by the Retinol-Binding Protein Receptor STRA6.

Journal: Sub-cellular biochemistry

Published: November 11, 2016

MATTHEW-WOOD SYNDROME: A CASE WITH DEXTROCARDIA AND STREAK GONADS.

Journal: Genetic counseling (Geneva, Switzerland)

Published: January 01, 2016

A novel mutation in two Hmong families broadens the range of STRA6-related malformations to include contractures and camptodactyly.

Journal: American journal of medical genetics. Part A

Published: February 03, 2015

STRA6: role in cellular retinol uptake and efflux.

Journal: Hepatobiliary surgery and nutrition

Published: November 26, 2014

Newborn with anophthalmia and features of Fryns syndrome.

Journal: Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society

Published: September 06, 2001

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Value of Dual-Energy Computed Tomography for Detecting Small Pancreatic Ductal Adenocarcinoma.

Value of Dual-Energy Computed Tomography for Detecting Small Pancreatic Ductal Adenocarcinoma.

Multifaceted role for p53 in pancreatic cancer suppression.

Multifaceted role for p53 in pancreatic cancer suppression.

Expanding the phenotype of STRA6-related disorder to include left ventricular non-compaction.

Expanding the phenotype of STRA6-related disorder to include left ventricular non-compaction.

Microphthalmia Syndrome 9: Case Report of a Newborn Baby with Pulmonary Hypoplasia, Diaphragmatic Eventration, Microphthalmia, Cardiac Defect and Severe Primary Pulmonary Hypertension.

Microphthalmia Syndrome 9: Case Report of a Newborn Baby with Pulmonary Hypoplasia, Diaphragmatic Eventration, Microphthalmia, Cardiac Defect and Severe Primary Pulmonary Hypertension.

A rare mutation of retinoic acid receptor-β associated with lethal neonatal Matthew-Wood syndrome.

A rare mutation of retinoic acid receptor-β associated with lethal neonatal Matthew-Wood syndrome.

Novel STRA6 null mutations in the original family described with Matthew-Wood syndrome.

Novel STRA6 null mutations in the original family described with Matthew-Wood syndrome.

Vitamin A Transport and Cell Signaling by the Retinol-Binding Protein Receptor STRA6.

Vitamin A Transport and Cell Signaling by the Retinol-Binding Protein Receptor STRA6.

MATTHEW-WOOD SYNDROME: A CASE WITH DEXTROCARDIA AND STREAK GONADS.

MATTHEW-WOOD SYNDROME: A CASE WITH DEXTROCARDIA AND STREAK GONADS.

A novel mutation in two Hmong families broadens the range of STRA6-related malformations to include contractures and camptodactyly.

A novel mutation in two Hmong families broadens the range of STRA6-related malformations to include contractures and camptodactyly.

STRA6: role in cellular retinol uptake and efflux.

STRA6: role in cellular retinol uptake and efflux.

Newborn with anophthalmia and features of Fryns syndrome.

Newborn with anophthalmia and features of Fryns syndrome.