(Q35432764)

English

Complex consanguinity associated with short rib-polydactyly syndrome III and congenital infection-like syndrome: a diagnostic problem in dysmorphic syndromes.

scientific article published in June 1999

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scholarly article

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10874634%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

Complex consanguinity associated with short rib-polydactyly syndrome III and congenital infection-like syndrome: a diagnostic problem in dysmorphic syndromes (English)

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10874634%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

congenital disorder

0 references

short rib – polydactyly syndrome

0 references

author name string

al-Gazali LI

1

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10874634%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

Sztriha L

2

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10874634%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

Dawodu A

3

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10874634%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

Varady E

4

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10874634%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

Bakir M

5

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10874634%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

Khdir A

6

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10874634%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

Johansen J

7

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10874634%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

language of work or name

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publication date

1 June 1999

1 reference

Europe PubMed Central

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8 November 2019

Journal of Medical Genetics

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10874634%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

36

1 reference

Europe PubMed Central

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8 November 2019

6

1 reference

Europe PubMed Central

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8 November 2019

461-466

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10874634%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

The autosomal recessive congenital intrauterine infection-like syndrome of microcephaly, intracranial calcification, and CNS disease: report of another Bedouin family.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734389

12 July 2018

A nine-month-old boy with microcephaly, cataracts, intracerebral calcifications and dysmorphic signs: an additional observation of an autosomal recessive congenital infection-like syndrome?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734389

12 July 2018

Central nervous system alterations in a case of short-rib polydactyly syndrome, Majewski type.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734389

12 July 2018

Lethal short rib-polydactyly syndromes: further evidence for their overlapping in a continuous spectrum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734389

12 July 2018

Short rib-polydactyly syndrome (SRPS) with anencephaly and other central nervous system anomalies: a new type of SRPS or a more severe expression of a known SRPS entity?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734389

12 July 2018

Autosomal recessive congenital intrauterine infection-like syndrome of microcephaly, intracranial calcification, and CNS disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734389

12 July 2018

The profile of major congenital abnormalities in the United Arab Emirates (UAE) population

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734389

12 July 2018

Non-Majewski short rib-polydactyly syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734389

12 July 2018

Short rib-polydactyly syndrome, Majewski type

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734389

12 July 2018

Ocular pathology of the Majewski syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734389

12 July 2018

Microcephaly and intracranial calcification in two brothers.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734389

12 July 2018

A progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734389

12 July 2018

Short rib-polydactyly syndrome: a single or heterogeneous entity? A re-evaluation prompted by four new cases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734389

12 July 2018

Two siblings with microcephaly associated with calcification of cerebral white matter

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734389

12 July 2018

A syndrome with intracranial calcification and microcephaly in two sibs, resembling intrauterine infection

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734389

12 July 2018

Perinatally lethal short rib-polydactyly syndromes. 1. Variability in known syndromes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734389

12 July 2018

Short rib syndrome--Beemer type in sibs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734389

12 July 2018

Beemer-Langer syndrome with manifestations of an orofaciodigital syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734389

12 July 2018

FGFR-4, a novel acidic fibroblast growth factor receptor with a distinct expression pattern

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734389

12 July 2018

International classification of osteochondrodysplasias. International Working Group on Constitutional Diseases of Bone

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734389

12 July 2018

New findings in short rib syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734389

26 September 2018

Unique expression pattern of the FGF receptor 3 gene during mouse organogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734389

26 September 2018

Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734389

26 September 2018

A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734389

26 September 2018

Difficulties in classification of the short rib-polydactyly syndromes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734389

26 September 2018

Short rib syndrome Beemer-Langer type with polydactyly: a multiple congenital anomalies syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/10874634

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Brief clinical report: short rib-polydactyly syndrome, Majewski type

1 reference

https://pubmed.ncbi.nlm.nih.gov/10874634

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Unusual short rib-polydactyly syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/10874634

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Chromosome 4p16 and osteochondroplasias

1 reference

https://pubmed.ncbi.nlm.nih.gov/10874634

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Short rib-polydactyly syndrome and pericentric inversion of chromosome 4

1 reference

https://pubmed.ncbi.nlm.nih.gov/10874634

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Short rib (polydactyly) syndrome type IV: Beemer-Langer syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/10874634

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10874634%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10874634%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

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