(Q37779272)

23 August 2017

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title

Achalasia: will genetic studies provide insights? (English)

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23 August 2017

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6

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23 August 2017

Henning R Gockel

1

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23 August 2017

Johannes Schumacher

2

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23 August 2017

Ines Gockel

3

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23 August 2017

Hauke Lang

4

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23 August 2017

Thomas Haaf

5

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23 August 2017

language of work or name

English

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publication date

11 August 2010

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23 August 2017

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23 August 2017

volume

128

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23 August 2017

issue

4

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23 August 2017

page(s)

353-364

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Colonic and Oesophageal Disturbance in a Patient with Multiple Endocrine Neoplasia, Type 2b

23 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0874-8

Achalasia and thyroid disease.

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An autosomal recessive disorder with posterior column ataxia and retinitis pigmentosa

21 January 2018

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Another case of achalasia-microcephaly syndrome

21 January 2018

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Physiology and pathophysiology of the interstitial cells of Cajal: from bench to bedside. IV. Genetic and animal models of GI motility disorders caused by loss of interstitial cells of Cajal

21 January 2018

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Loss of mammalian Sprouty2 leads to enteric neuronal hyperplasia and esophageal achalasia

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Achalasia and microcephaly

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12 December 2020

Late-onset triple A syndrome: a risk of overlooked or delayed diagnosis and management

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12 December 2020

Marfan's syndrome presenting with achalasia of the oesophagus. A case report

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12 December 2020

Familial infantile achalasia in three siblings

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12 December 2020

Negative receptor signalling

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12 December 2020

Dubowitz syndrome and achalasia: two rare conditions in a child

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12 December 2020

Focal nodular hyperplasia of the liver associated with cardial achalasia, situs viscerum inversus and gastric mucosal ectopia in the duodenum

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12 December 2020

HLA and enteric antineuronal antibodies in patients with achalasia.

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12 December 2020

ALADINI482S causes selective failure of nuclear protein import and hypersensitivity to oxidative stress in triple A syndrome

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12 December 2020

Familial visceral neuropathy with neuronal intranuclear inclusions: Diagnosis by rectal biopsy

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12 December 2020

Achalasia like disorder of the oesophagus in von Recklinghausen's neurofibromatosis

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12 December 2020

Megaoesophagus in the mouse: histochemical and ultrastructural studies

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12 December 2020

Infantile hypertrophic pyloric stenosis and achalasia: NO-related or non-related conditions?

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12 December 2020

Inflammatory aetiology of primary oesophageal achalasia: an immunohistochemical and ultrastructural study of Auerbach's plexus

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12 December 2020

Association of PTPN22 1858 single-nucleotide polymorphism with rheumatoid arthritis in a German cohort: higher frequency of the risk allele in male compared to female patients

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12 December 2020

Megaoesophagus in Rassf1a-null mice.

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12 December 2020

[Achalasia of the cardia in 2 brothers, not twins]

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12 December 2020

Human enteric neuropathies: morphology and molecular pathology.

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12 December 2020

Achalasia sicca--juvenile Sjögren's syndrome with achalasia and gastric hyposecretion

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12 December 2020

Structure, expression, and chromosomal localization of the type I human vasoactive intestinal peptide receptor gene

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12 December 2020

Reduction of interstitial cells of Cajal (ICC) associated with neuronal nitric oxide synthase (n-NOS) in patients with achalasia

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12 December 2020

Interstitial cells of Cajal mediate enteric inhibitory neurotransmission in the lower esophageal and pyloric sphincters

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12 December 2020

Achalasia in father and son.

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12 December 2020

Alimentary tract manifestations of multiple endocrine neoplasia, type 2b

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12 December 2020

Restoration of nuclear-import failure caused by triple A syndrome and oxidative stress

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12 December 2020

Smith-Lemli-Opitz syndrome with a classical phenotype, oesophageal achalasia and borderline plasma sterol concentrations

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12 December 2020

Role of nitric oxide in esophageal peristalsis in the opossum

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12 December 2020

Autosomal Recessive Deafness: Associated With Short Stature, Vitiligo, Muscle Wasting and Achalasia

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12 December 2020

Age-dependent association of idiopathic achalasia with vasoactive intestinal peptide receptor 1 gene

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12 December 2020

Etiology and pathogenesis of achalasia: the current understanding

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12 December 2020

Multiple endocrine neoplasia, type 2b

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12 December 2020

Multiple endocrine neoplasia (MEN) syndrome type IIB: gastrointestinal manifestations

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12 December 2020

Achalasia in Anderson-Fabry's disease

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12 December 2020

Coexistent Hirschsprung's disease and esophageal achalasia in male siblings

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12 December 2020

Achalasia in siblings. Clinical and genetic aspects

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12 December 2020

Down syndrome: perinatal complications and counseling experiences in 216 patients

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12 December 2020

The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies

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12 December 2020

Megaoesophagus in ICRC mice

1 reference

12 December 2020

Achalasia and diffuse oesophageal spasm in siblings

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12 December 2020

Family occurrence of achalasia and diffuse spasm of the oesophagus

1 reference

12 December 2020

Familial visceral neuropathy with autosomal dominant transmission

1 reference

12 December 2020

Sex-specific association of PTPN22 1858T with type 1 diabetes but not with Hashimoto's thyroiditis or Addison's disease in the German population

1 reference

12 December 2020

Clinical and molecular genetic findings in a 6-year-old Bosnian boy with triple A syndrome

1 reference

12 December 2020

Nitric oxide: mediator of nonadrenergic noncholinergic responses of opossum esophageal muscle

1 reference

12 December 2020

Neurological and adrenal dysfunction in the adrenal insufficiency/alacrima/achalasia (3A) syndrome

1 reference

12 December 2020

The cysteine-rich sprouty translocation domain targets mitogen-activated protein kinase inhibitory proteins to phosphatidylinositol 4,5-bisphosphate in plasma membranes

1 reference

12 December 2020

Esophageal Lewy bodies associated with ganglion cell loss in achalasia. Similarity to Parkinson's disease

1 reference

12 December 2020

Lower esophageal sphincter is achalasic in nNOS(-/-) and hypotensive in W/W(v) mutant mice

1 reference

12 December 2020

Significant DQw1 association in achalasia

1 reference

12 December 2020

Family Occurrence of Achalasia

1 reference

12 December 2020

Down's syndrome and esophageal achalasia: a rare but important clinical entity

1 reference

12 December 2020

A study of swallowing difficulties in first degree relatives of patients with achalasia

1 reference

12 December 2020

Sjögren's syndrome and achalasia of the cardia in two siblings

1 reference

12 December 2020

Alport's syndrome and achalasia

1 reference

12 December 2020

Clinical and genetic characterization of families with triple A (Allgrove) syndrome

1 reference

12 December 2020

Renal and neuronal abnormalities in mice lacking GDNF

1 reference

12 December 2020

Sprouty2 inhibits the Ras/MAP kinase pathway by inhibiting the activation of Raf.

1 reference

12 December 2020

Autoimmune-associated lymphoid tyrosine phosphatase is a gain-of-function variant

1 reference

12 December 2020

Association between achalasia and nitric oxide synthase gene polymorphisms

1 reference

12 December 2020

Megaesophagus and recurrent apnea in an adult patient with familial dysautonomia

1 reference

12 December 2020

Familial Achalasia of the Esophagus in Mother and Son: A Possible Pathogenetic Relationship

1 reference

12 December 2020

Achalasia of the cardiac sphincter and the pylorus?

1 reference

12 December 2020

Achalasia in three siblings: a rare occurrence

1 reference

12 December 2020

Double pylorus and esophageal achalasia

1 reference

12 December 2020

Duplication of the pylorus found concomitantly with achalasia: congenital or peptic etiology?

1 reference

12 December 2020

Achalasia microcephaly syndrome in a patient with consanguineous parents: support for a.m. being a distinct autosomal recessive condition

1 reference

12 December 2020

Megacystis-microcolon-intestinal hypoperistalsis syndrome associated with megaesophagus

1 reference

12 December 2020

Pathophysiology of achalasia

1 reference

12 December 2020

Familial enteric neuropathy with pseudoobstruction

1 reference

12 December 2020

Attenuated nitrergic inhibitory neurotransmission to interstitial cells of Cajal in the lower esophageal sphincter with esophageal achalasia in children

1 reference

12 December 2020

Repetitive proximal esophageal contractions: a new manometric finding and a possible further link between Parkinson's disease and achalasia

1 reference

12 December 2020

Patients with achalasia lack nitric oxide synthase in the gastro-oesophageal junction

1 reference

12 December 2020

Hirschsprung disease, associated syndromes, and genetics: a review

1 reference

12 December 2020

Myenteric antiplexus antibodies and class II HLA in achalasia

1 reference

12 December 2020

Klein-Waardenburg syndrome. Report of 3 cases in a family with a review of the literature

1 reference

12 December 2020

Idiopathic intestinal pseudo-obstruction: a familial visceral neuropathy

1 reference

12 December 2020

Exon structure and flanking intronic sequences of the human RET proto-oncogene

1 reference

12 December 2020

Familial achalasia, microcephaly, and mental retardation. Case report and review of literature

1 reference

12 December 2020

Congential achalasia of the oesophagus in children

1 reference

12 December 2020

Familial intestinal pseudoobstruction dominated by a progressive neurologic disease at a young age.

1 reference

12 December 2020

The combination of Hirschsprung's disease and achalasia

1 reference

12 December 2020

Familial achalasia in two siblings: significance of possible hereditary role

1 reference

12 December 2020

Treacher Collins syndrome and achalasia

1 reference

12 December 2020

[The association of megaesophagus, Binder's syndrome and dysautonomia: a new neurocristopathy]

1 reference

12 December 2020

Sensory ataxic neuropathy and esophageal achalasia in a patient with Sjogren's syndrome

1 reference

12 December 2020

Nitric oxide synthase distribution in the enteric nervous system of children with cardiac achalasia

1 reference

12 December 2020

Achalasia in monozygotic twins

1 reference

12 December 2020

Infantile achalasia; inherited as an autosomal recessive disorder

1 reference

12 December 2020

Achalasia of the cardia associated with hereditary cerebellar ataxia

1 reference

12 December 2020

Achalasia in mother and daughter

1 reference

12 December 2020

Molecular definition of a region of chromosome 21 that causes features of the Down syndrome phenotype

1 reference

12 December 2020

Achalasia of the cardia and multiple endocrine neoplasia 2B

1 reference

12 December 2020

ACHALASIA IN FRATERNAL TWINS

1 reference

12 December 2020

Familial glucocorticoid deficiency with achalasia of the cardia and deficient tear production

1 reference

12 December 2020

Achalasia of the esophagus in childhood. Surgical treatment in 35 cases, with special reference to familial cases and glucocorticoid deficiency association

1 reference

12 December 2020

[Familial achalasia of the esophagus in infancy (author's transl)]

1 reference

12 December 2020

GDNF availability determines enteric neuron number by controlling precursor proliferation.

1 reference

12 December 2020

Down syndrome and the enteric nervous system

1 reference

12 December 2020

Impact of genetic polymorphisms on the pathogenesis of achalasia: an age-dependent paradigm?

1 reference

12 December 2020

Role of PTPN22 in type 1 diabetes and other autoimmune diseases

1 reference

12 December 2020

Reduced number of neurons in esophageal plexus ganglia in Down syndrome: additional evidence for reduced cell number as a basic feature of the disorder

1 reference

12 December 2020

1 reference

12 December 2020

Nitric oxide mediating NANC inhibition in opossum lower esophageal sphincter

1 reference

12 December 2020

New insights into the molecular basis of the triple A syndrome

1 reference

12 December 2020

Anorectal motility in patients with achalasia of the esophagus: recognition of an esophago-rectal syndrome

1 reference

12 December 2020

Familial infantile oesophageal achalasia

1 reference

12 December 2020

"Cold" single-strand conformational variants for mutation analysis of the RET protooncogene

1 reference

12 December 2020

Discordance for achalasia in identical twins

1 reference

12 December 2020

Achalasia due to diffuse esophageal leiomyomatosis and inherited as an autosomal dominant disorder. Report of a family study

1 reference

12 December 2020

The many faces of VIP in neuroimmunology: a cytokine rather a neuropeptide?

1 reference

12 December 2020

Immunoeffector and immunoregulatory activities of vasoactive intestinal peptide

1 reference

12 December 2020

Achalasia of the cardia associated with pulmonary sarcoidosis.

1 reference

12 December 2020

Linkage of the gene for the triple A syndrome to chromosome 12q13 near the type II keratin gene cluster

1 reference

12 December 2020

Defects in enteric innervation and kidney development in mice lacking GDNF

1 reference

12 December 2020

Parkinson's disease: from monogenic forms to genetic susceptibility factors

1 reference

12 December 2020

Sprouty1 and Sprouty2 provide a control mechanism for the Ras/MAPK signalling pathway

1 reference

12 December 2020

The triple A syndrome is due to mutations in ALADIN, a novel member of the nuclear pore complex

1 reference

12 December 2020

Hereditary neuronal intranuclear inclusion disease with autonomic failure and cerebellar degeneration

1 reference

12 December 2020

Enteric neuroblasts require the phosphatidylinositol 3-kinase/Akt/Forkhead pathway for GDNF-stimulated survival

1 reference

12 December 2020

Familial achalasia in children

1 reference

12 December 2020

Sjögren's syndrome; review of the literature and report of a case with achalasia of the esophagus.

1 reference

12 December 2020

Presence of a protective allele for achalasia on the central region of the major histocompatibility complex

1 reference

12 December 2020

Esophageal achalasia associated with von Recklinghausen's neurofibromatosis

1 reference

12 December 2020

Megaoesophagus in a patient with autoimmune polyglandular syndrome type II

1 reference

12 December 2020

Achalasia in a father and son.

1 reference

12 December 2020

[Shy-Drager syndrome and megaesophagus (author's transl)]

1 reference

12 December 2020

Triple A syndrome: genotype–phenotype assessment

1 reference

12 December 2020

Characterization of nitric oxide synthase in the opossum esophagus.

1 reference

12 December 2020

The Goldenhar syndrome: a natural history

1 reference

12 December 2020

Familial visceral neuropathy: a defined entity?

1 reference

12 December 2020

Gender-specific association of the PTPN22 C1858T polymorphism with achalasia.

1 reference

12 December 2020

Familial coexistence of achalasia and non-achalasic oesophageal dysmotility: evidence for a common pathogenesis

1 reference

12 December 2020

Renal agenesis and the absence of enteric neurons in mice lacking GDNF

1 reference

12 December 2020

Congenital achalasia: facts and fantasies

1 reference

12 December 2020

Contribution of HLA class II genes to susceptibility in achalasia

1 reference

12 December 2020

Enteric nervous system progenitors are coordinately controlled by the G protein-coupled receptor EDNRB and the receptor tyrosine kinase RET.

1 reference

12 December 2020

Achalasia in siblings in infancy

1 reference

12 December 2020

Mutant WD-repeat protein in triple-A syndrome

1 reference

12 December 2020

Review article: molecular, pathological and therapeutic features of human enteric neuropathies.

1 reference

12 December 2020

Nitric oxide in the peripheral nervous system

1 reference

12 December 2020

Idiopathic (primary) achalasia

1 reference

12 December 2020

[Laryngo-tracheo-oesophageal cleft and G-syndrome--interposition of a flap from the sternocleidomastoid muscle (author's transl)]

1 reference

12 December 2020

Mammalian sprouty proteins inhibit cell growth and differentiation by preventing ras activation

1 reference

12 December 2020

Esophageal and gastric nitric oxide synthesizing innervation in primary achalasia

1 reference

12 December 2020

Congenital cholinergic nervous system dysfunction in identical twins

1 reference

12 December 2020

Idiopathic achalasia is not allelic to alacrima achalasia adrenal insufficiency syndrome at the ALADIN locus

1 reference

12 December 2020

A familial neuronal disease presenting as intestinal pseudoobstruction

1 reference

12 December 2020

Achalasia in siblings

1 reference

12 December 2020

[Higher incidence of thyropathy in patients with oesophageal achalasia. Genetic, autoimmune, regional or just a random association?]

1 reference

12 December 2020

Alimentary-tract ganglioneuromatosis. A major component of the syndrome of multiple endocrine neoplasia, type 2b

1 reference

12 December 2020

Achalasia of the cardia in sibs

1 reference

12 December 2020

Achalasia of the Cardia in Allgroveʼs (Triple A) Syndrome: Histopathologic Study of 10 Cases

1 reference

12 December 2020

Neuronal NOS provides nitrergic inhibitory neurotransmitter in mouse lower esophageal sphincter

1 reference

12 December 2020

Achalasia cardia in mother and son

1 reference

12 December 2020

Dysautonomic achalasia in two siblings with Sandhoff disease

1 reference

12 December 2020

HLA class II peptide-binding and autoimmunity

1 reference

12 December 2020

Association of HLA-DR and -DQ alleles with idiopathic achalasia

1 reference

12 December 2020

Genetic association of vasoactive intestinal peptide receptor with rheumatoid arthritis: Altered expression and signal in immune cells

1 reference

12 December 2020

Multiple endocrine neoplasia syndromes, children, Hirschsprung's disease and RET.

1 reference

12 December 2020

Esophageal achalasia and hypertrophic pyloric stenosis associated with a phytobezoar in an adolescent

1 reference

12 December 2020

Ectodermal Dysplasia Syndrome in Siblings with True Keloids, Stenosis of the Esophagus after Operations for Congenital Achalasia and Renovascular Hypertension due to Stenosis of Renal Artery

1 reference

12 December 2020

The "4A" syndrome: adrenocortical insufficiency associated with achalasia, alacrima, autonomic and other neurological abnormalities

1 reference

12 December 2020

Pathophysiological significance of neuronal nitric oxide synthase in the gastrointestinal tract

1 reference

12 December 2020

Clinical audit of gastrointestinal conditions occurring among adults with Down syndrome attending a specialist clinic

1 reference

12 December 2020

Familial childhood achalasia

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12 December 2020

Opitz-Frias syndrome. A case with potentially hazardous anaesthetic implications.

1 reference

12 December 2020

10.1007/S00439-010-0874-8

Identifiers

DOI

1 reference

23 August 2017

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