(Q37871531)

English

A comprehensive review of reported heritable noggin-associated syndromes and proposed clinical utility of one broadly inclusive diagnostic term: NOG-related-symphalangism spectrum disorder (NOG-SSD).

scientific article published on 21 June 2011

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

24 August 2017

1 reference

Europe PubMed Central

A comprehensive review of reported heritable noggin-associated syndromes and proposed clinical utility of one broadly inclusive diagnostic term: NOG-related-symphalangism spectrum disorder (NOG-SSD). (English)

1 reference

Europe PubMed Central

PubMed publication ID

24 August 2017

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author name string

Tommy A Potti

1

1 reference

Europe PubMed Central

PubMed publication ID

24 August 2017

Elizabeth M Petty

2

1 reference

Europe PubMed Central

PubMed publication ID

24 August 2017

Marci M Lesperance

3

1 reference

Europe PubMed Central

PubMed publication ID

24 August 2017

publication date

21 June 2011

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Europe PubMed Central

PubMed publication ID

24 August 2017

1 reference

Europe PubMed Central

PubMed publication ID

24 August 2017

32

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Europe PubMed Central

PubMed publication ID

24 August 2017

8

1 reference

Europe PubMed Central

PubMed publication ID

24 August 2017

877-886

1 reference

Europe PubMed Central

PubMed publication ID

24 August 2017

Signaling Pathways in Human Skeletal Dysplasias

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21 January 2018

Lumping and splitting: molecular biology in the genetics clinic

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21 January 2018

Characterization of a stapes ankylosis family with a NOG mutation

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21 January 2018

Autosomal dominant stapes ankylosis with broad thumbs and toes, hyperopia, and skeletal anomalies is caused by heterozygous nonsense and frameshift mutations in NOG, the gene encoding noggin

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21 January 2018

Noggin, cartilage morphogenesis, and joint formation in the mammalian skeleton

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21 January 2018

GDF5 is a second locus for multiple-synostosis syndrome.

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21 January 2018

Prevalence of otosclerosis in an unselected series of temporal bones.

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21 January 2018

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

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21 January 2018

Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4

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21 January 2018

Identical mutations in NOG can cause either tarsal/carpal coalition syndrome or proximal symphalangism

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21 January 2018

Otosclerosis or congenital stapes ankylosis? The diagnostic role of genetic analysis

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21 January 2018

Bone morphogenetic protein receptor complexes on the surface of live cells: a new oligomerization mode for serine/threonine kinase receptors

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Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis

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Structural basis of BMP signalling inhibition by the cystine knot protein Noggin

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Many sequence variants affecting diversity of adult human height

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21 January 2018

Conductive deafness, symphalangism, and facial abnormalities: the WL syndrome in a Japanese family.

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21 January 2018

P35S mutation in the NOG gene associated with Teunissen-Cremers syndrome and features of multiple NOG joint-fusion syndromes

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Bone morphogenetic proteins in development

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21 January 2018

Noggin heterozygous mice: an animal model for congenital conductive hearing loss in humans.

1 reference

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21 January 2018

Premature ovarian failure in a female with proximal symphalangism and Noggin mutation.

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21 January 2018

Localization of a multiple synostoses-syndrome disease gene to chromosome 17q21-22.

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A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN.

1 reference

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21 January 2018

Identification of a novel NOG gene mutation (P35S) in an Italian family with symphalangism

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21 January 2018

Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate

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21 January 2018

Human disease-causing NOG missense mutations: effects on noggin secretion, dimer formation, and bone morphogenetic protein binding

1 reference

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21 January 2018

Stapedectomy in congenital stapes fixation: are hearing outcomes poorer?

1 reference

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21 January 2018

Noggin-mediated antagonism of BMP signaling is required for growth and patterning of the neural tube and somite

1 reference

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21 January 2018

Identification and association analysis of single nucleotide polymorphisms in the human noggin (NOG) gene and osteoporosis phenotypes

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21 January 2018

The mode of bone morphogenetic protein (BMP) receptor oligomerization determines different BMP-2 signaling pathways.

1 reference

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21 January 2018

Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B

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21 January 2018

Growth and skeletal development in families with NOGGIN gene mutations.

1 reference

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21 January 2018

Hearing loss in patients with osteogenesis imperfecta. A clinical and audiological study of 201 patients.

1 reference

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21 January 2018

Localization of the gene (SYM1) for proximal symphalangism to human chromosome 17q21-q22

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21 January 2018

Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2

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21 January 2018

dbSNP: the NCBI database of genetic variation

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21 January 2018

Treatment of congenital deformities of the hand and forearm (second of two parts).

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21 January 2018

Expression cloning of noggin, a new dorsalizing factor localized to the Spemann organizer in Xenopus embryos

1 reference

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21 January 2018

Congenital stapesankylosis and fusion of tarsal and carpal bones as a dominant hereditary syndrome

1 reference

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21 January 2018

A tribute to our teacher, Dr. Judith Hall: a child with the trait of the Earl of Shrewsbury.

1 reference

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21 January 2018

Mutations of the NOG gene in individuals with proximal symphalangism and multiple synostosis syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21515

21 January 2018

An autosomal dominant inherited syndrome with congenital stapes ankylosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21515

21 January 2018

The facio-audio-symphalangism syndrome in a four generation family with a nonsense mutation in the NOG-gene.

1 reference

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Symphalangism, strabismus and hearing loss in mother and daughter.

1 reference

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21 January 2018

Intracellular BMP signaling regulation in vertebrates: pathway or network?

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21 January 2018

Teunissen-Cremers syndrome: a clinical, surgical, and genetic report.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21515

21 January 2018

Multiple synostoses syndrome is due to a missense mutation in exon 2 of FGF9 gene

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21 January 2018

High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men

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Extracellular regulation of BMP signaling

1 reference

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21 January 2018

The Spemann organizer signal noggin binds and inactivates bone morphogenetic protein 4

1 reference

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DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage

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Requirement for BMP signaling in interdigital apoptosis and scale formation.

1 reference

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A novel NOG mutation Pro37Arg in a family with tarsal and carpal synostoses

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

Carpal and tarsal synostoses and transverse reduction defects of the toes in two brothers heterozygous for a double de novo NOGGIN mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21515

7 January 2021

based on heuristic

inferred from DOI database lookup

Classification and identification of inherited brachydactylies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21515

7 January 2021

based on heuristic

inferred from DOI database lookup

Congenital malformation of the feet with low body height. A new syndrome, caused by an autosomal dominant gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21515

7 January 2021

based on heuristic

inferred from DOI database lookup

Structural basis of BMP signaling inhibition by Noggin, a novel twelve-membered cystine knot protein.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21515

7 January 2021

based on heuristic

inferred from DOI database lookup

The autosomal dominant syndrome with congenital stapes ankylosis, broad thumbs and hyperopia.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21515

7 January 2021

based on heuristic

inferred from DOI database lookup

The facio-audio-symphalangism syndrome: report of a case and review of the literature

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21515

7 January 2021

based on heuristic

inferred from DOI database lookup

Facioaudiosymphalangism syndrome and growth acceleration associated with a heterozygous NOG mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21515

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of mammalian noggin and its expression in the adult nervous system

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21515

7 January 2021

based on heuristic

inferred from DOI database lookup

A novel mutation in GDF5 causes autosomal dominant symphalangism in two Chinese families

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21515

7 January 2021

based on heuristic

inferred from DOI database lookup

Novel point mutations in GDF5 associated with two distinct limb malformations in Chinese: brachydactyly type C and proximal symphalangism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21515

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1002/HUMU.21515

1 reference

Europe PubMed Central

PubMed publication ID

24 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

24 August 2017

ResearchGate publication ID

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