| scholarly article | Q13442814 |
| P6179 | Dimensions Publication ID | 1011094541 |
| P356 | DOI | 10.1038/EJHG.2015.275 |
| P932 | PMC publication ID | 4970688 |
| P698 | PubMed publication ID | 26813947 |
| P5875 | ResearchGate publication ID | 292143144 |
| P50 | author | Manuela Mosconi | Q84287368 |
| Yiran Guo | Q86425434 | ||
| Jianguo Zhang | Q88046607 | ||
| Hakon Hakonarson | Q30003940 | ||
| Paolo Nozza | Q42386020 | ||
| Isabella Ceccherini | Q54441088 | ||
| Marcella Devoto | Q56927290 | ||
| Giuseppe Martucciello | Q57211761 | ||
| P2093 | author name string | Arrigo Barabino | |
| Roberto De Giorgio | |||
| Vincenzo Stanghellini | |||
| Roberto Ravazzolo | |||
| Margherita Lerone | |||
| Ivana Matera | |||
| Marco Di Duca | |||
| Marta Rusmini | |||
| Jiankang Li | |||
| Alessio Pini Prato | |||
| Francesco Morandi | |||
| P2860 | cites work | R179H mutation in ACTA2 expanding the phenotype to include prune-belly sequence and skin manifestations | Q57533602 |
| HOX11L1: a promoter study to evaluate possible expression defects in intestinal motility disorders | Q74287700 | ||
| Megacystis microcolon intestinal hypoperistalsis syndrome | Q81528624 | ||
| Familial visceral myopathy diagnosed by exome sequencing of a patient with chronic intestinal pseudo-obstruction | Q87774355 | ||
| SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism | Q28218691 | ||
| Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections. | Q34712315 | ||
| Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome | Q35133615 | ||
| Analysis of the RET, GDNF, EDN3, and EDNRB genes in patients with intestinal neuronal dysplasia and Hirschsprung disease. | Q35363393 | ||
| Filamin A is mutated in X-linked chronic idiopathic intestinal pseudo-obstruction with central nervous system involvement | Q35752546 | ||
| A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome | Q35959734 | ||
| Phenotypic expansion of visceral myopathy associated with ACTG2 tandem base substitution. | Q36695738 | ||
| The London Classification of gastrointestinal neuromuscular pathology: report on behalf of the Gastro 2009 International Working Group. | Q37767965 | ||
| Chronic intestinal pseudo-obstruction: clinical features, diagnosis, and therapy | Q37958417 | ||
| Familial megacystis microcolon intestinal hypoperistalsis syndrome: a systematic review | Q38129743 | ||
| New Insights into the Genetics of Fetal Megacystis: ACTG2 Mutations, Encoding γ-2 Smooth Muscle Actin in Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (Berdon Syndrome). | Q40914444 | ||
| Evaluation of the HOX11L1 gene as a candidate for congenital disorders of intestinal innervation | Q43075912 | ||
| Associated anomalies in intestinal neuronal dysplasia. | Q50488980 | ||
| De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis. | Q54441066 | ||
| De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction | Q55670541 | ||
| Segregation of a missense variant in enteric smooth muscle actin γ-2 with autosomal dominant familial visceral myopathy | Q55671550 | ||
| P433 | issue | 8 | |
| P921 | main subject | intestinal pseudo-obstruction | Q3924862 |
| P304 | page(s) | 1211-1215 | |
| P577 | publication date | 2016-01-27 | |
| P1433 | published in | European Journal of Human Genetics | Q2155433 |
| P1476 | title | Variants of the ACTG2 gene correlate with degree of severity and presence of megacystis in chronic intestinal pseudo-obstruction | |
| P478 | volume | 24 |
| Q90309559 | ACTG2-Associated Visceral Myopathy With Chronic Intestinal Pseudoobstruction, Intestinal Malrotation, Hypertrophic Pyloric Stenosis, Choledochal Cyst, and a Novel Missense Mutation |
| Q64060864 | Central and Peripheral Changes in FOS Expression in Schizophrenia Based on Genome-Wide Gene Expression |
| Q55021518 | Chronic intestinal pseudo-obstruction in a child harboring a founder Hirschsprung RET mutation. |
| Q58575087 | Consanguinity and its relevance for the incidence of megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS): systematic review |
| Q38830477 | Diagnosis of Chronic Intestinal Pseudo-obstruction & Megacystis by Sequencing the ACTG2 Gene |
| Q38899834 | Genetics of enteric neuropathies. |
| Q49912363 | Homozygous deletion in MYL9 expands the molecular basis of megacystis-microcolon-intestinal hypoperistalsis syndrome. |
| Q47158163 | Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome |
| Q91460482 | Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy |
| Q55452202 | Visceral myopathy: Clinical and molecular survey of a cohort of seven new patients and state of the art of overlapping phenotypes. |
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