(Q41575175)

4 October 2017

1 reference

title

Intersitial deletion of 20p: new candidate region for Hirschsprung disease and autism? (English)

1 reference

4 October 2017

0 references

Michaelis RC

1

1 reference

4 October 2017

Skinner SA

2

1 reference

4 October 2017

Deason R

3

1 reference

4 October 2017

Skinner C

4

1 reference

4 October 2017

Moore CL

5

1 reference

4 October 2017

Phelan MC

6

1 reference

4 October 2017

1 August 1997

1 reference

American Journal of Medical Genetics Part A

4 October 2017

1 reference

4 October 2017

71

1 reference

4 October 2017

3

1 reference

4 October 2017

298-304

1 reference

Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease

4 October 2017

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970822%2971%3A3%3C298%3A%3AAID-AJMG10%3E3.0.CO%3B2-F

Alagille syndrome and deletion of 20p.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970822%2971%3A3%3C298%3A%3AAID-AJMG10%3E3.0.CO%3B2-F

Asperger syndrome in a boy with a balanced de novo translocation: t(17;19)(p13.3;p11)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970822%2971%3A3%3C298%3A%3AAID-AJMG10%3E3.0.CO%3B2-F

The incidence of cognitive disabilities in the siblings of autistic children.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970822%2971%3A3%3C298%3A%3AAID-AJMG10%3E3.0.CO%3B2-F

Endothelin-B receptor mutations in patients with isolated Hirschsprung disease from a non-inbred population

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970822%2971%3A3%3C298%3A%3AAID-AJMG10%3E3.0.CO%3B2-F

Autism as a strongly genetic disorder: evidence from a British twin study

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970822%2971%3A3%3C298%3A%3AAID-AJMG10%3E3.0.CO%3B2-F

Brief report: duplication of chromosome 15q11-13 in two individuals with autistic disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970822%2971%3A3%3C298%3A%3AAID-AJMG10%3E3.0.CO%3B2-F

Adenomatous polyposis coli and a cytogenetic deletion of chromosome 5 resulting from a maternal intrachromosomal insertion

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970822%2971%3A3%3C298%3A%3AAID-AJMG10%3E3.0.CO%3B2-F

Mild Brachmann-de Lange syndrome. Delineation of the clinical phenotype, and characteristic behaviors in a six-year-old boy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970822%2971%3A3%3C298%3A%3AAID-AJMG10%3E3.0.CO%3B2-F

Fragile X and autism: a multicenter survey.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970822%2971%3A3%3C298%3A%3AAID-AJMG10%3E3.0.CO%3B2-F

The Dopamine D2 Receptor Locus as a Modifying Gene in Neuropsychiatric Disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970822%2971%3A3%3C298%3A%3AAID-AJMG10%3E3.0.CO%3B2-F

Mutations of the RET proto-oncogene in Hirschsprung's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970822%2971%3A3%3C298%3A%3AAID-AJMG10%3E3.0.CO%3B2-F

Long segment and short segment familial Hirschsprung's disease: variable clinical expression at the RET locus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970822%2971%3A3%3C298%3A%3AAID-AJMG10%3E3.0.CO%3B2-F

Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970822%2971%3A3%3C298%3A%3AAID-AJMG10%3E3.0.CO%3B2-F

Infantile autism: a genetic study of 21 twin pairs

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970822%2971%3A3%3C298%3A%3AAID-AJMG10%3E3.0.CO%3B2-F

Adenylosuccinate lyase (ADSL) and infantile autism: absence of previously reported point mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970822%2971%3A3%3C298%3A%3AAID-AJMG10%3E3.0.CO%3B2-F

The sex chromosomes--one key to autism? An XYY case of infantile autism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970822%2971%3A3%3C298%3A%3AAID-AJMG10%3E3.0.CO%3B2-F

Autism associated with marker chromosome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970822%2971%3A3%3C298%3A%3AAID-AJMG10%3E3.0.CO%3B2-F

The 1993-94 Généthon human genetic linkage map

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970822%2971%3A3%3C298%3A%3AAID-AJMG10%3E3.0.CO%3B2-F

Male-to-male transmission in extended pedigrees with multiple cases of autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970822%2971%3A3%3C298%3A%3AAID-AJMG10%3E3.0.CO%3B2-F

Possible association of c-Harvey-Ras-1 (HRAS-1) marker with autism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970822%2971%3A3%3C298%3A%3AAID-AJMG10%3E3.0.CO%3B2-F

Absence of linkage of apparently single gene mediated ADHD with the human syntenic region of the mouse mutant Coloboma.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970822%2971%3A3%3C298%3A%3AAID-AJMG10%3E3.0.CO%3B2-F

A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970822%2971%3A3%3C298%3A%3AAID-AJMG10%3E3.0.CO%3B2-F

Autistic features in Joubert syndrome: a genetic disorder with agenesis of the cerebellar vermis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970822%2971%3A3%3C298%3A%3AAID-AJMG10%3E3.0.CO%3B2-F

A case of autism associated with partial tetrasomy 15.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970822%2971%3A3%3C298%3A%3AAID-AJMG10%3E3.0.CO%3B2-F

A prevalence study of autism in tuberous sclerosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970822%2971%3A3%3C298%3A%3AAID-AJMG10%3E3.0.CO%3B2-F

De novo mutation of GDNF, ligand for the RET/GDNFR-alpha receptor complex, in Hirschsprung disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970822%2971%3A3%3C298%3A%3AAID-AJMG10%3E3.0.CO%3B2-F

The UCLA-University of Utah epidemiologic survey of autism: genealogical analysis of familial aggregation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970822%2971%3A3%3C298%3A%3AAID-AJMG10%3E3.0.CO%3B2-F

Novel mutations of the endothelin-B receptor gene in isolated patients with Hirschsprung's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970822%2971%3A3%3C298%3A%3AAID-AJMG10%3E3.0.CO%3B2-F

Molecular and cytogenetic analyses of autism in Taiwan.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970822%2971%3A3%3C298%3A%3AAID-AJMG10%3E3.0.CO%3B2-F

Neurological aspects of del(1q) syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970822%2971%3A3%3C298%3A%3AAID-AJMG10%3E3.0.CO%3B2-F

Identification and analysis of the gene encoding human PC2, a prohormone convertase expressed in neuroendocrine tissues

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970822%2971%3A3%3C298%3A%3AAID-AJMG10%3E3.0.CO%3B2-F

Association study with two markers of a human homeogene in infantile autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970822%2971%3A3%3C298%3A%3AAID-AJMG10%3E3.0.CO%3B2-F

A family history study of neuropsychiatric disorders in the adult siblings of autistic individuals.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970822%2971%3A3%3C298%3A%3AAID-AJMG10%3E3.0.CO%3B2-F

A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970822%2971%3A3%3C298%3A%3AAID-AJMG10%3E3.0.CO%3B2-F

Molecular cytogenetic analysis of a duplication Xp in a male: further delineation of a possible sex influencing region on the X chromosome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970822%2971%3A3%3C298%3A%3AAID-AJMG10%3E3.0.CO%3B2-F

Concordance for the syndrome of autism in 40 pairs of afflicted twins

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970822%2971%3A3%3C298%3A%3AAID-AJMG10%3E3.0.CO%3B2-F

Cloning and characterization of a fourth human somatostatin receptor

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970822%2971%3A3%3C298%3A%3AAID-AJMG10%3E3.0.CO%3B2-F

Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970822%2971%3A3%3C298%3A%3AAID-AJMG10%3E3.0.CO%3B2-F

Outcome of Sturge-Weber syndrome in 52 adults.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970822%2971%3A3%3C298%3A%3AAID-AJMG10%3E3.0.CO%3B2-F

A twin study of autism in Denmark, Finland, Iceland, Norway and Sweden

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970822%2971%3A3%3C298%3A%3AAID-AJMG10%3E3.0.CO%3B2-F

Autism in Angelman syndrome: a population-based study

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970822%2971%3A3%3C298%3A%3AAID-AJMG10%3E3.0.CO%3B2-F

A mutation in adenylosuccinate lyase associated with mental retardation and autistic features

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970822%2971%3A3%3C298%3A%3AAID-AJMG10%3E3.0.CO%3B2-F

Isolation and fine mapping of 16 novel human zinc finger-encoding cDNAs identify putative candidate genes for developmental and malignant disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970822%2971%3A3%3C298%3A%3AAID-AJMG10%3E3.0.CO%3B2-F

Implication of sex differences in the familial transmission of infantile autism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970822%2971%3A3%3C298%3A%3AAID-AJMG10%3E3.0.CO%3B2-F

A case of infantile autism associated with Down's syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970822%2971%3A3%3C298%3A%3AAID-AJMG10%3E3.0.CO%3B2-F

Cytogenetic and clinical studies in five cases of inv dup(15)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970822%2971%3A3%3C298%3A%3AAID-AJMG10%3E3.0.CO%3B2-F

Personality characteristics of parents of autistic children: a controlled study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970822%2971%3A3%3C298%3A%3AAID-AJMG10%3E3.0.CO%3B2-F

Goldberg-Shprintzen syndrome: Hirschsprung disease, hypotonia, and ptosis in sibs

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970822%2971%3A3%3C298%3A%3AAID-AJMG10%3E3.0.CO%3B2-F

Cloning and sequence analysis of the human SNAP25 cDNA

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970822%2971%3A3%3C298%3A%3AAID-AJMG10%3E3.0.CO%3B2-F

Evidence for autosomal recessive inheritance in 46 families with multiple incidences of autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970822%2971%3A3%3C298%3A%3AAID-AJMG10%3E3.0.CO%3B2-F

Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970822%2971%3A3%3C298%3A%3AAID-AJMG10%3E3.0.CO%3B2-F

The association of Waardenburg syndrome and Hirschsprung megacolon

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970822%2971%3A3%3C298%3A%3AAID-AJMG10%3E3.0.CO%3B2-F

Duplication of the 15q11-13 region in a patient with autism, epilepsy and ataxia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970822%2971%3A3%3C298%3A%3AAID-AJMG10%3E3.0.CO%3B2-F

Autism and medical disorders: a review of the literature.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970822%2971%3A3%3C298%3A%3AAID-AJMG10%3E3.0.CO%3B2-F

A complete YAC contig of the Prader-Willi/Angelman chromosome region (15q11-q13) and refined localization of the SNRPN gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970822%2971%3A3%3C298%3A%3AAID-AJMG10%3E3.0.CO%3B2-F

Hirschsprung's Disease and Congenital Deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970822%2971%3A3%3C298%3A%3AAID-AJMG10%3E3.0.CO%3B2-F

Obesity and abnormal behaviour associated with interstitial deletion of chromosome 18 (q12.2q21.1).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970822%2971%3A3%3C298%3A%3AAID-AJMG10%3E3.0.CO%3B2-F

10.1002/(SICI)1096-8628(19970822)71:3<298::AID-AJMG10>3.0.CO;2-F

21 January 2018

Identifiers

DOI

1 reference

4 October 2017

1 reference