(Q33677028)

English

BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects

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scholarly article

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PubMed publication ID

28 July 2017

BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects (English)

1 reference

Europe PubMed Central

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28 July 2017

Lenz microphthalmia syndrome

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based on heuristic

inferred from title

John W. Belmont

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28 July 2017

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28 July 2017

object named as

Emma Hilton

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Pierre Bitoun

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Leslie G Biesecker

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object named as

Leslie G Biesecker

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28 July 2017

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Alain Verloes

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author name string

Jennifer Johnston

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Sandra Whalen

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Nobuhiko Okamoto

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Yoshikazu Hatsukawa

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Juntaro Nishio

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Hiroshi Kohara

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Yoshiko Hirano

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Seiji Mizuno

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Chiharu Torii

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Kenjiro Kosaki

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Sylvie Manouvrier

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Odile Boute

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Rahat Perveen

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Caroline Law

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Anthony Moore

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David Fitzpatrick

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Johannes Lemke

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Florence Fellmann

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François-Guillaume Debray

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Florence Dastot-Le-Moal

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28 July 2017

Marion Gerard

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Josiane Martin

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Michel Goossens

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Albert Schinzel

27

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28 July 2017

Deborah Bartholdi

28

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28 July 2017

Tanya Bardakjian

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28 July 2017

Beverly Hay

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28 July 2017

Kim Jenny

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Kathreen Johnston

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Michael Lyons

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Irina Giurgea

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publication date

15 April 2009

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28 July 2017

European Journal of Human Genetics

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28 July 2017

17

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28 July 2017

10

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28 July 2017

1325-1335

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Europe PubMed Central

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28 July 2017

Lenz microphthalmic syndrome in an Indian patient

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2826145

28 July 2018

Left-sided embryonic expression of the BCL-6 corepressor, BCOR, is required for vertebrate laterality determination

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2826145

28 July 2018

A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2826145

28 July 2018

Novel mutations in BCOR in three patients with oculo-facio-cardio-dental syndrome, but none in Lenz microphthalmia syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2826145

28 July 2018

Rapid detection of CFTR gene rearrangements impacts on genetic counselling in cystic fibrosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2826145

28 July 2018

Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2826145

28 July 2018

Lenz microphthalmia syndrome with dental anomalies: a case report

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2826145

28 July 2018

Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2826145

28 July 2018

Genetic heterogeneity of syndromic X-linked recessive microphthalmia-anophthalmia: is Lenz microphthalmia a single disorder?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2826145

28 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2826145

28 July 2018

Lenz microphthalmia syndrome: three additional cases with rare associated anomalies.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2826145

28 July 2018

Rare dental abnormalities seen in oculo-facio-cardio-dental (OFCD) syndrome: three new cases and review of nine patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2826145

28 July 2018

A case of Lenz microphthalmia syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2826145

28 July 2018

Accurate diagnosis of carriers of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2826145

28 July 2018

Cataracts, radiculomegaly, septal heart defects and hearing loss in two unrelated adult females with normal intelligence and similar facial appearance: confirmation of a syndrome?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2826145

28 July 2018

Oculo-facio-cardio-dental (OFCD) syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2826145

28 July 2018

X-linked colobomatous microphthalmos and other congenital anomalies. A disorder resembling Lenz's dysmorphogenetic syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2826145

28 July 2018

Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2826145

28 July 2018

The Lenz microphthalmia syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2826145

28 July 2018

A case of oculo-facio-cardio-dental syndrome with integrated orthodontic-prosthodontic treatment.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.52

21 January 2018

Three cases of oculo-facio-cardio-dental (OFCD) syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.52

21 January 2018

Oculo-facio-cardio-dental syndrome: report of a rare case.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2826145

30 October 2018

[Recessive, sex-limited microphthalmia with multiple abnormalities]

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2826145

30 October 2018

Congenital cataract, microphthalmia and septal heart defect in two generations: a new syndrome?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2826145

30 October 2018

A syndrome with true anophthalmia, hand-foot defects and mental retardation

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.52

21 January 2018

Oculo-facio-cardio-dental (OFCD) syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/19367324

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Heredofamilial bilateral anophthalmia

1 reference

https://pubmed.ncbi.nlm.nih.gov/19367324

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Case reports of oculofaciocardiodental syndrome with unusual dental findings

1 reference

https://pubmed.ncbi.nlm.nih.gov/19367324

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Oculo-facio-cardio-dental syndrome in a mother and daughter

1 reference

https://pubmed.ncbi.nlm.nih.gov/19367324

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Heterotaxy: associated conditions and hospital-based prevalence in newborns

1 reference

https://pubmed.ncbi.nlm.nih.gov/19367324

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic mapping of a novel X-linked recessive colobomatous microphthalmia

1 reference

https://pubmed.ncbi.nlm.nih.gov/19367324

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Oculo-facio-cardio-dental syndrome: two new cases

1 reference

https://pubmed.ncbi.nlm.nih.gov/19367324

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Oculo‐facio‐cardio‐dental syndrome: Skewed X chromosome inactivation in mother and daughter suggest X‐linked dominant Inheritance

1 reference

https://pubmed.ncbi.nlm.nih.gov/19367324

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Linkage studies in Lenz microphthalmia

1 reference

https://pubmed.ncbi.nlm.nih.gov/19367324

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cuspid gigantism

1 reference

https://pubmed.ncbi.nlm.nih.gov/19367324

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Lenz microphthalmia--a case report

1 reference

https://pubmed.ncbi.nlm.nih.gov/19367324

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Lenz microphthalmia: a malformation syndrome with variable expression of multiple congenital anomalies

1 reference

https://pubmed.ncbi.nlm.nih.gov/19367324

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sex-linked hereditary bilateral anophthalmos. Pathologic and radiologic correlation

1 reference

https://pubmed.ncbi.nlm.nih.gov/19367324

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A syndrome with true anophthalmia, hand-foot defects and mental retardation

1 reference

https://pubmed.ncbi.nlm.nih.gov/19367324

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Radiculomegaly of canines and congenital cataracts--a syndrome?

1 reference

https://pubmed.ncbi.nlm.nih.gov/19367324

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

X-linked clinical anophthalmos Localization of the gene to Xq27-Xq28

1 reference

https://pubmed.ncbi.nlm.nih.gov/19367324

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Radiculomegaly of canine teeth and congenital cataracts: Confirmation of a syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/19367324

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A sporadic case of Lenz microphthalmia syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/19367324

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1038/EJHG.2009.52

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

ResearchGate publication ID

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