Infantile hypertrophic pyloric stenosis--genetics and syndromes (Q38024972)

27 August 2017

Infantile hypertrophic pyloric stenosis--genetics and syndromes (English)

1 reference

27 August 2017

Babette Peeters

1

1 reference

27 August 2017

Marc A Benninga

series ordinal

2

1 reference

27 August 2017

Raoul C M Hennekam

series ordinal

3

1 reference

27 August 2017

language of work or name

English

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publication date

10 July 2012

1 reference

Nature Reviews Gastroenterology & Hepatology

27 August 2017

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27 August 2017

9

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27 August 2017

646-660

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27 August 2017

11

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https://scigraph.springernature.com/pub.10.1038/nrgastro.2012.133

27 August 2017

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The true cause of pyloric stenosis is hyperacidity

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Pathophysiological significance of neuronal nitric oxide synthase in the gastrointestinal tract

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No association between the SNPs (rs56134796; rs3824934; rs41302375) in the TRPC6 gene promoter and infantile hypertrophic pyloric stenosis in Chinese people.

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Common variants near MBNL1 and NKX2-5 are associated with infantile hypertrophic pyloric stenosis

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Single-nucleotide promoter polymorphism alters transcription of neuronal nitric oxide synthase exon 1c in infantile hypertrophic pyloric stenosis

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Lack of association between nNOS -84G>A polymorphism and risk of infantile hypertrophic pyloric stenosis in a Chinese population.

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Absence of motilin gene mutations in infantile hypertrophic pyloric stenosis

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Gastric somatostatin content and binding in children with hypertrophic pyloric stenosis: a long-term follow-up study.

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Targeted disruption of the neuronal nitric oxide synthase gene.

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Deletion of exon 6 of the neuronal nitric oxide synthase gene in mice results in hypogonadism and infertility

21 January 2018

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Perinatal nitric oxide synthase inhibition retards neonatal growth by inducing hypertrophic pyloric stenosis in rats.

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A histological study of the hph-1 mouse mutant: an animal model of phenylketonuria and infantile hypertrophic pyloric stenosis.

21 January 2018

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Haploinsufficiency of TNXB is associated with hypermobility type of Ehlers-Danlos syndrome

21 January 2018

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A family with Ehlers-Danlos syndrome type III/articular hypermobility syndrome has a glycine 637 to serine substitution in type III collagen

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Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome

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No cholesterol metabolism anomalies detectable in infants with hypertrophic pyloric stenosis

21 January 2018

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Pyloromyotomy in an infant with hypoplastic left heart syndrome status-post hybrid procedure: not just another case?

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Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia

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Nonsense mutations in FGF8 gene causing different degrees of human gonadotropin-releasing deficiency.

21 January 2018

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A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules

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de Lange syndrome: a clinical review of 310 individuals

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Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B

21 January 2018

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Development of NIPBL locus-specific database using LOVD: from novel mutations to further genotype-phenotype correlations in Cornelia de Lange Syndrome

21 January 2018

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Mutations in the hepatocyte nuclear factor-1beta gene are associated with familial hypoplastic glomerulocystic kidney disease

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The expression and activity of renal nitric oxide synthase and circulating nitric oxide in polycystic kidney disease rats

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Ccbe1 is required for embryonic lymphangiogenesis and venous sprouting

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Further case of Cantú syndrome: exclusion of cryptic subtelomeric chromosome aberrations

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Contiguous gene syndromes: a component of recognizable syndromes

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Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies

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Exome sequencing supports a de novo mutational paradigm for schizophrenia.

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Care for patients with ultra-rare disorders

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Cardiovascular and diabetes mortality determined by nutrition during parents' and grandparents' slow growth period

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Finding the missing heritability of complex diseases

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Next-generation sequencing demands next-generation phenotyping

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Heterogeneity for congenital generalized lipodystrophy in seventeen patients from Oman.

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A 26-month-old child with Marden-Walker syndrome and pyloric stenosis

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Pyloromyotomy in a patient with paramyotonia congenita

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Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitus

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A defective response to Hedgehog signaling in disorders of cholesterol biosynthesis

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Recognition of Zellweger syndrome in infancy.

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Functional intestinal obstruction due to deficiency of argyrophil neurones in the myenteric plexus. Familial syndrome presenting with short small bowel, malrotation, and pyloric hypertrophy

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The FG syndrome: report of a large Italian series.

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Manifestations in four males with and an obligate carrier of the Lenz microphthalmia syndrome

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Simpson-Golabi-Behmel syndrome with severe cardiac arrhythmias

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Costello syndrome: phenotype, natural history, differential diagnosis, and possible cause.

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Lymphedema-lymphangiectasia-mental retardation (Hennekam) syndrome: a review

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Infant with severe penicillamine embryopathy born to a woman with Wilson disease.

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A newly recognized, likely autosomal recessive syndrome comprising agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis, and other features.

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Additional case of craniofacial and digital anomalies as reported by Harrod et al.

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Multiple congenital anomalies/mental retardation (MCA/MR) syndrome due to interstitial deletion 1q.

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1.6Mb deletion in chromosome band 3q29 associated with eye abnormalities.

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Submicroscopic unbalanced translocation resulting in del10p/dup13q detected by subtelomere FISH.

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A paternally derived inverted duplication of distal 14q with a terminal 14q deletion.

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Major feeding difficulties in the first reported case of interstitial 20q11.22-q12 microdeletion and molecular cytogenetic characterization.

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Down syndrome and the enteric nervous system

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Congenital hypertrophic pyloric stenosis in phenotypic female twins with X-XX mosaicism

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No association between a promoter NOS1 polymorphism (rs41279104) and Infantile Hypertrophic Pyloric Stenosis

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Toriello-Carey syndrome: Delineation and review

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Infantile hypertrophic pyloric stenosis: evaluation of three positional candidate genes, TRPC1, TRPC5 and TRPC6, by association analysis and re-sequencing

21 January 2018

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The epidemiology of infantile hypertrophic pyloric stenosis in New York State, 1983 to 1990

21 January 2018

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Neuronal nitric oxide synthase, nNOS, is not linked to infantile hypertrophic pyloric stenosis in three families.

31 March 2020

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Genome-wide linkage analysis in families with infantile hypertrophic pyloric stenosis indicates novel susceptibility loci

31 March 2020

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[Fetal alcohol syndrome and pyloric stenosis]

31 March 2020

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Very early exposure to erythromycin and infantile hypertrophic pyloric stenosis

31 March 2020

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The epidemiology of infantile hypertrophic pyloric stenosis

31 March 2020

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Helicobacter pylori and infantile hypertrophic pyloric stenosis: is there a possible relationship?

31 March 2020

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The inheritance of congenital pyloric stenosis

31 March 2020

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Altered messenger RNA expression of the neuronal nitric oxide synthase gene in infantile hypertrophic pyloric stenosis

31 March 2020

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Genomic variants in the coding region of neuronal nitric oxide synthase (NOS1) in infantile hypertrophic pyloric stenosis

31 March 2020

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Structural immaturity of the pylorus muscle in infantile hypertrophic pyloric stenosis

31 March 2020

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Immunochemical characterization of neural cell adhesion molecule (NCAM), nitric oxide synthase, and neurofilament protein expression in pyloric muscle of patients with pyloric stenosis

31 March 2020

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Study of the interstitial cells of Cajal in infantile hypertrophic pyloric stenosis

31 March 2020

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Nitric oxide synthesis inhibition: the effect on rabbit pyloric muscle

31 March 2020

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Infantile hypertrophic pyloric stenosis and asymptomatic joint hypermobility

31 March 2020

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Active collagen synthesis in infantile hypertrophic pyloric stenosis

31 March 2020

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Familial hypoplastic glomerulocystic kidney disease: a definite entity with dominant inheritance

31 March 2020

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Costello syndrome associated with novel germline HRAS mutations: an attenuated phenotype?

31 March 2020

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Early death in two sisters with Hennekam syndrome

31 March 2020

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[Fetal alcohol syndrome and hypertrophic pyloric stenosis in two brothers]

31 March 2020

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The familial incidence of congenital pyloric stenosis

31 March 2020

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Apert's syndrome (a type of acrocephalosyndactyly)-observations on a British series of thirty-nine cases

31 March 2020

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Effective indirect pulp capping (Cp-treatment)

31 March 2020

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Congenital nephrotic syndrome: evolution of medical management and results of renal transplantation

31 March 2020

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A novel mutation of WT1 exon 9 in a patient with Denys-Drash syndrome and pyloric stenosis

31 March 2020

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Report of two sibs with Knobloch syndrome (encephalocoele and viteroretinal degeneration) and other anomalies

31 March 2020

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Craniofacial dysotosis with fibrous metaphyseal deffects

31 March 2020

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Compound heterozygous mutations in PYCR1 further expand the phenotypic spectrum of De Barsy syndrome

31 March 2020

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X-linked ichthyosis associated with hypertrophic pyloric stenosis in three brothers

31 March 2020

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Hypertrophic pyloric stenosis associated with X-linked ichthyosis in two brothers

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Recessive X-linked ichthyosis associated with hypertrophic pyloric stenosis: a chance occurrence?

31 March 2020

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The ulnar-mammary syndrome: an autosomal dominant pleiotropic gene

31 March 2020

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Dominantly-inherited polycystic kidneys in infants: association with hypertrophic pyloric stenosis

31 March 2020

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Familial short rib syndrome, type Beemer, with pyloric stenosis and short intestine, one case diagnosed prenatally

31 March 2020

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Autosomal recessive polycystic kidney disease

31 March 2020

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Radial aplasia, poikiloderma and auto-immune enterocolitis--new syndrome or severe form of Rothmund-Thomson syndrome?

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRGASTRO.2012.133

Bifurcation of the femur with tibial agenesis and additional anomalies

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRGASTRO.2012.133

Maternal uniparental disomy for chromosome 2 in association with confined placental mosaicism for trisomy 2 and severe intrauterine growth retardation

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRGASTRO.2012.133

Two brothers with an unbalanced 8;17 translocation and infantile pyloric stenosis.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRGASTRO.2012.133

Paris-Trousseau syndrome : clinical, hematological, molecular data of ten new cases

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRGASTRO.2012.133

Inherited Congenital Bilateral Atresia of the External Auditory Canal, Congenital Bilateral Vertical Talus and Increased Interocular Distance

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRGASTRO.2012.133

Congenital chylothorax in siblings

31 March 2020

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12 December 2020

Multiple malformations in a male and maternal osteopathia strata with cranial sclerosis (OSCS)

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12 December 2020

A syndrome of craniofacial, digital, and genital anomalies

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12 December 2020

Genetic analyses of pyloric stenosis suggesting a specific maternal effect

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12 December 2020

Prenatal prescription of macrolide antibiotics and infantile hypertrophic pyloric stenosis

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12 December 2020

Identical G+1 to A mutations in three different introns of the type III procollagen gene (COL3A1) produce different patterns of RNA splicing in three variants of Ehlers-Danlos syndrome. IV. An explanation for exon skipping some mutations and not othe

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12 December 2020

[Role of nitric oxide synthase in the etiopathogenesis of hypertrophic pyloric stenosis in infants]

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12 December 2020

Infantile hypertrophic pyloric stenosis: data on 81 pairs of twins

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12 December 2020

Familial syndrome combining short small intestine, intestinal malrotation, pyloric hypertrophy and brain malformation. 3 anatomoclinical case reports

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12 December 2020

Syndrome of mental retardation, cleft palate, eventration of diaphragm, congenital heart defect, glaucoma, growth failure and craniosynostosis

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12 December 2020

Etiopathogenic analysis of the caries on three patients with Noonan Syndrome

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12 December 2020

Analysis of an interstitial deletion in a patient with Kallmann syndrome, X-linked ichthyosis and mental retardation

1 reference

12 December 2020

The pathology of peroxisomal disorders with pathogenetic considerations.

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12 December 2020

Congenital and neurological abnormalities in infants with phenylketonuria

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12 December 2020

Cutis gyratum, acanthosis nigricans and other congenital anomalies. A new syndrome

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12 December 2020

Pyloric stenosis in the Oxford Record Linkage Study area

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12 December 2020

A distinctive syndrome of brachycephaly, deafness, cataracts and mental retardation.

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12 December 2020

Autosomal trisomy syndromes: a detailed study of 27 cases of Edwards' syndrome and 27 cases of Patau's syndrome

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12 December 2020

Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK).

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12 December 2020

Yunis-Varon syndrome: the first case of German origin

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12 December 2020

Partial trisomy 13q22-->qter and monosomy 18q21-->qter as a result of familial translocation

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12 December 2020

Arthrogryposis, perthes disease, and upward gaze palsy: a novel autosomal recessive syndromic form of arthrogryposis

1 reference

12 December 2020

Neocortical and hippocampal volume loss in a human ciliopathy: A quantitative MRI study in Bardet-Biedl syndrome

1 reference

12 December 2020

Genetic evidence for the neuronal nitric oxide synthase gene (NOS1) as a susceptibility locus for infantile pyloric stenosis

1 reference

12 December 2020

Recurrence risks in complex inheritance with special regard to pyloric stenosis

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12 December 2020

Distribution of heme oxygenase-2 in nerves and interstitial cells of Cajal in the normal pylorus and in infantile hypertrophic pyloric stenosis

1 reference

12 December 2020

The locus for a novel syndromic form of neuronal intestinal pseudoobstruction maps to Xq28

1 reference

12 December 2020

Deletion of the short arm of chromosome No. 10.

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12 December 2020

Infantile hypertrophic pyloric stenosis. Decreasing incidence.

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12 December 2020

Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 Mutations

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12 December 2020

[Pyloristenosis caused by a neurofibroma in a case of Recklinghausen's disease]

1 reference

12 December 2020

10.1038/NRGASTRO.2012.133

Identifiers

DOI

1 reference

27 August 2017

1 reference