Disease: Megacystis microcolon intestinal hypoperistalsis syndrome
- 16p13.11 microdeletion uncovers loss-of-function of a MYH11 missense variant in a patient with megacystis-microcolon-intestinal-hypoperistalsis syndrome
- A +3 variant at a donor splice site leads to a skipping of the MYH11 exon 32, a recurrent RNA defect causing Heritable Thoracic Aortic Aneurysm and Dissection and/or Patent Ductus Arteriosus
- A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome
- A lmod1a mutation causes megacystis microcolon intestinal hypoperistalsis in a CRISPR/Cas9-modified zebrafish model
- A national survey of patients with intestinal motility disorders who are potential candidates for intestinal transplantation in Japan
- A Novel Mutation in ACTG2 Gene in Mother with Chronic Intestinal Pseudoobstruction and Fetus with Megacystis Microcolon Intestinal Hypoperistalsis Syndrome
- ACTG2 variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis Syndrome
- An unusual urinary tract presentation in a case of megacystis microcolon intestinal hypoperistalsis syndrome
- Anesthesic managing in Berdon's syndrome
- Application of three-dimensional imaging to the intestinal crypt organoids and biopsied intestinal tissues
- Autosomal Recessive ACTG2-Related Visceral Myopathy in Brothers
- Central venous catheter infection-related glomerulonephritis under long-term parenteral nutrition: a report of two cases
- Chromosomal abnormalities associated with fetal megacystis
- Classification and diagnostic criteria of variants of Hirschsprung's disease
- Collateral Damage From Fetal Interventions: Increasing the Complexity of Complex Patients
- Compound heterozygous loss of function variants in MYL9 in a child with megacystis-microcolon-intestinal hypoperistalsis syndrome
- Compound heterozygous variants in MYH11 underlie autosomal recessive megacystis-microcolon-intestinal hypoperistalsis syndrome in a Chinese family
- Congenital mydriasis associated with megacystis microcolon intestinal hypoperistalsis syndrome
- Consanguinity and its relevance for the incidence of megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS): systematic review
- Cutting-edge regenerative therapy for Hirschsprung disease and its allied disorders
- De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis
- Diagnostic Criteria of Pediatric Intestinal Myopathies
- Esophageal dysmotility: An intrinsic feature of megacystis, microcolon, hypoperistalsis syndrome (MMIHS)
- Exploring the complexities of megacystis-microcolon-intestinal hypoperistalsis syndrome: insights from genetic studies
- Familial megacystis microcolon intestinal hypoperistalsis syndrome: a systematic review
- Fetal megacystis as a prenatal challenge: megacystis-microcolon-intestinal hypoperistalsis syndrome in a male fetus
- Fetal megacystis-microcolon: Genetic mutational spectrum and identification of PDCL3 as a novel candidate gene
- Fetal megacystis: a lot more than LUTO
- Fetal megacystis: A systematic review
- Five New Cases of Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome (MMIHS), with One Case Showing a Novel Mutation
- Genome-wide analysis identifies MYH11 compound heterozygous variants leading to visceral myopathy corresponding to late-onset form of megacystis-microcolon-intestinal hypoperistalsis syndrome
- Heterozygous Actg2(R257C) mice mimic the phenotype of megacystis microcolon intestinal hypoperistalsis syndrome
- Heterozygous Actg2<sup>R257C</sup> mice mimic the phenotype of megacystis microcolon intestinal hypoperistalsis syndrome
- Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome
- Histopathological, Ultrastructural, and Immunohistochemical Findings in <em>MYH11</em>-Variant Visceral Myopathy
- Homozygous deletion in MYL9 expands the molecular basis of megacystis-microcolon-intestinal hypoperistalsis syndrome
- Imaging findings in megacystis-microcolon-intestinal hypoperistalsis syndrome
- Imaging findings of a twin male neonate with megacystis microcolon intestinal hypoperistalsis syndrome
- Interstitial cells of Cajal: clinical relevance in pediatric gastrointestinal motility disorders
- Intestinal Pathology in Patients With Pathogenic <em>ACTG2</em>-Variant Visceral Myopathy: 16 Patients From 12 Families and Review of the Literature
- Isolated intestinal transplantation for megacystis microcolon intestinal hypoperistalsis syndrome: case report
- Japanese clinical practice guidelines for allied disorders of Hirschsprung's disease, 2017
- Loss of LMOD1 impairs smooth muscle cytocontractility and causes megacystis microcolon intestinal hypoperistalsis syndrome in humans and mice
- Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome
- Loss-of-function variants within LMOD1 actin-binding site 2 cause pediatric intestinal pseudo-obstruction by impairing protein stability and actin nucleation
- Massive atonic bleeding during cesarean delivery in a patient with chronic idiopathic intestinal pseudo-obstruction: A case report and literature review
- Megacystic microcolon intestinal hypoperistalsis syndrome with mydriasis in a male child
- Megacystis microcolon intestinal hypoperistalsis syndrome
- Megacystis microcolon intestinal hypoperistalsis syndrome
- Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIHS): A Rarity
- Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS): challenges in diagnosis and management
- Megacystis Microcolon Intestinal Hypoperistalsis Syndrome in Which a Different De Novo Actg2 Gene Mutation was Detected: A Case Report
- Megacystis Microcolon Intestinal Hypoperistalsis Syndrome: A Case Series With Long-term Follow-up and Prolonged Survival
- Megacystis microcolon intestinal hypoperistalsis syndrome: A report of a nationwide survey in Japan
- Megacystis Microcolon Intestinal Hypoperistalsis Syndrome: Case Reports and Discussion of the Literature
- Megacystis microcolon intestinal hypoperistalsis syndrome: Case series and updated review of the literature with an emphasis on urologic management
- Megacystis microcolon intestinal hypoperistalsis syndrome: report of 2 cases
- Megacystis Microcolon Intestinal Hypoperistalsis Syndrome: Report of a Rare Case in Newborn
- Megacystis-microcolon intestinal hypoperistalsis syndrome (MMIHS) as a rare differential diagnosis of foetal megacystis on ultrasonography
- Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS): report of a case with prolonged survival and literature review
- Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome (MMIHS): Series of 4 Cases Caused by Mutation of ACTG2 (Actin Gamma 2, Smooth Muscle) Gene
- Megacystis-microcolon-intestinal hypoperistalsis syndrome associated with cystic fibrosis and meconium peritonitis in a female neonate 4 days of age - case report and review of the literature
- Megacystis-microcolon-intestinal hypoperistalsis syndrome associated with prune belly syndrome: a case report
- Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome: A Case Report of an Uncommon Condition
- Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome: An Unusual In Utero Presentation
- Megacystis-microcolon-intestinal hypoperistalsis syndrome: case report and review of prenatal ultrasonographic findings
- Megacystis-microcolon-intestinal hypoperistalsis syndrome: don't forget the bladder
- Mutation in Actin gamma-2 Responsible for Megacystis Microcolon Intestinal Hypoperistalsis Syndrome in 4 Chinese Patients
- Mutation in Actin γ-2 Responsible for Megacystis Microcolon Intestinal Hypoperistalsis Syndrome in 4 Chinese Patients
- New Insights into the Genetics of Fetal Megacystis: ACTG2 Mutations, Encoding gamma-2 Smooth Muscle Actin in Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (Berdon Syndrome)
- New Insights into the Genetics of Fetal Megacystis: ACTG2 Mutations, Encoding γ-2 Smooth Muscle Actin in Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (Berdon Syndrome)
- Novel ACTG2 variants disclose allelic heterogeneity and bi-allelic inheritance in pediatric chronic intestinal pseudo-obstruction
- Pediatric Intestinal Pseudo-obstruction in the Era of Genetic Sequencing
- Perinatal outcome and prognostic factors of fetal megacystis diagnosed at 11-14 week's gestation
- Placental Fetal Thrombotic Vasculopathy Occurring in Association with Megacystis-microcolon-intestinal Hypoperistalsis Syndrome: A Case Report
- Prenatal diagnosis of megacystis microcolon intestinal hypoperistalsis syndrome by biochemical analysis of fetal urine
- Prenatal renal parenchymal area as a predictor of early end-stage renal disease in children with vesicoamniotic shunting for lower urinary tract obstruction
- Protein-elongating mutations in MYH11 are implicated in a dominantly inherited smooth muscle dysmotility syndrome with severe esophageal, gastric, and intestinal disease
- Purple urine in Berdon syndrome: a rare finding in the clinic laboratory
- Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy
- Reversal of Intestinal Failure-Associated Liver Disease by Switching From a Combination Lipid Emulsion Containing Fish Oil to Fish Oil Monotherapy
- Single-center outcome analysis of 46 fetuses with megacystis after intrauterine vesico-amniotic shunting with the Somatex®intrauterine shunt
- Syndromic and single gene disorders associated with fetal megacystis (I): Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS)
- Tension Pneumoperitoneum: A Rare Presentation Of Megacystis Microcolon Intestinal Hypoperistalsis Syndrome
- The Diverse Phenotype of Intestinal Dysmotility Secondary to ACTG2-related Disorders
- The incidence and outcome of allied disorders of Hirschsprung's disease in Japan: Results from a nationwide survey
- Troubleshooting Tips for Diagnosing Complex Fetal Genitourinary Malformations
- Ultrasound prenatal diagnosis of typical megacystis, microcolon, intestinal hypoperistalsis syndrome
- Urologic Phenotype and Patterns of Care in Patients With Megacystis Microcolon Intestinal Hypoperistalsis Syndrome Presenting to a Major Pediatric Transplantation Center
- Use of pediatric donor en bloc kidneys along with bladder segment in pediatric liver-kidney and multivisceral-kidney transplantation
- Use of vascularized posterior rectus sheath allograft in pediatric multivisceral transplantation--report of two cases
- Use of whole genome sequencing to determine the genetic basis of visceral myopathies including Prune Belly syndrome
- Variant in ACTG2 Causing Megacystis Microcolon Hypoperistalsis Syndrome and Severe Familial Postpartum Bleeding
- Variants in ACTG2 underlie a substantial number of Australasian patients with primary chronic intestinal pseudo-obstruction
- Variants of Hirschsprung disease
- Variants of the ACTG2 gene correlate with degree of severity and presence of megacystis in chronic intestinal pseudo-obstruction
- Visceral myopathy diagnosed by a de novo <em>ACTG2</em> mutation in a patient with chronic intestinal pseudo-obstruction-a case report
- Visceral myopathy: Clinical and molecular survey of a cohort of seven new patients and state of the art of overlapping phenotypes
- Visceral myopathy: clinical syndromes, genetics, pathophysiology, and fall of the cytoskeleton
- Z-scores of fetal bladder size for antenatal differential diagnosis between posterior urethral valves and urethral atresia