Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI. (Q34246303)

31 July 2017

Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI. (English)

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oral-facial-digital syndrome

31 July 2017

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5

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31 July 2017

23

Enza Maria Valente

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Ronen Spiegel

21

Ronen Spiegel

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Renato Borgatti

6

Renato Borgatti

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31 July 2017

Romina Romaniello

18

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Filippo Arrigoni

Filippo Arrigoni

4

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Andrea Poretti

Andrea Poretti

1

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Eugen Boltshauser

24

Eugen Boltshauser

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31 July 2017

Thierry A.G.M. Huisman

11

Thierry A G M Huisman

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31 July 2017

Lorenzo Pinelli

17

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ORCID Public Data File 2021

Raoul Hennekam

3

Raoul C M Hennekam

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31 July 2017

16

Melissa M Lees

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31 July 2017

12

Miriam Iannicelli

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31 July 2017

2

Giuseppina Vitiello

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31 July 2017

10

Lucio Giordano

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31 July 2017

19

Ianina Scheer

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31 July 2017

Francesco Brancati

7

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31 July 2017

Stefano D'Arrigo

8

1 reference

31 July 2017

Francesca Faravelli

9

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31 July 2017

Gerhard Kluger

13

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31 July 2017

Marten Kyllerman

14

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31 July 2017

Magnus Landgren

15

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31 July 2017

Christoph E Schwarz

20

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31 July 2017

Daniel Tibussek

22

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31 July 2017

11 January 2012

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Orphanet Journal of Rare Diseases

31 July 2017

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7

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31 July 2017

4

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https://scigraph.springernature.com/pub.10.1186/1750-1172-7-4

31 July 2017

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Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics

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6 July 2018

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Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

6 July 2018

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6 July 2018

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Structural abnormalities of the brain other than molar tooth sign in Joubert syndrome-related disorders

6 July 2018

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Neuroimaging advances in holoprosencephaly: Refining the spectrum of the midline malformation

6 July 2018

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AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis

6 July 2018

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6 July 2018

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Clinical and molecular features of Joubert syndrome and related disorders

6 July 2018

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High-resolution SNP arrays in mental retardation diagnostics: how much do we gain?

6 July 2018

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OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin

6 July 2018

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Joubert syndrome: insights into brain development, cilium biology, and complex disease

6 July 2018

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Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies

6 July 2018

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Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease

6 July 2018

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6 July 2018

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A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies

6 July 2018

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Neurodevelopmental outcomes in children with cerebellar malformations: a systematic review

6 July 2018

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RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders.

6 July 2018

1 reference

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Prenatal and neonatal MR imaging findings in oral-facial-digital syndrome type VI.

6 July 2018

1 reference

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The molar tooth sign: a new Joubert syndrome and related cerebellar disorders classification system tested in Egyptian families

6 July 2018

1 reference

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CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders

6 July 2018

1 reference

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High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations

6 July 2018

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AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders

6 July 2018

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Heritable syndromes with hypothalamic hamartoma and seizures: using rare syndromes to understand more common disorders

6 July 2018

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Optic nerve coloboma, Dandy-Walker malformation, microglossia, tongue hamartomata, cleft palate and apneic spells: an existing oral-facial-digital syndrome or a new variant?

6 July 2018

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OFD II, OFD VI, and Joubert syndrome manifestations in 2 sibs

6 July 2018

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Clinical nosologic and genetic aspects of Joubert and related syndromes

6 July 2018

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A case of oral-facial-digital syndrome with overlapping manifestations of type V and type VI: a possible new OFD syndrome

6 July 2018

1 reference

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Absent pituitary gland and hypoplasia of the cerebellar vermis associated with partial ophthalmoplegia and postaxial polydactyly: a variant of orofaciodigital syndrome VI or a new syndrome?

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3313869

"Joubert syndrome" revisited: key ocular motor signs with magnetic resonance imaging correlation.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3313869

Follow-up in children with Joubert syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3313869

Hypothalamic hamartoma in oral-facial-digital syndrome type VI (Váradi syndrome).

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3313869

Syndrome of polydactyly, cleft lip/palate or lingual lump, and psychomotor retardation in endogamic gypsies.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3313869

Syndrome of polydactyly, cleft lip, lingual hamartomas, renal hypoplasia, hearing loss, and psychomotor retardation: variant of the Mohr syndrome or a new syndrome?

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3313869

Oral-facial-digital syndrome type VI (Váradi syndrome): further clinical delineation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3313869

Variability versus heterogeneity in syndromal hypothalamic hamartoblastoma and related disorders: review and delineation of the cerebro-acro-visceral early lethality (CAVE) multiplex syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3313869

Joubert syndrome (and related disorders) (OMIM 213300).

6 July 2018

1 reference

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Normal cognitive functions in joubert syndrome.

21 January 2018

1 reference

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Magnetic resonance imaging features and classification of central nervous system malformations in Joubert syndrome.

21 January 2018

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Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes.

21 January 2018

1 reference

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Diffusion tensor imaging in Joubert syndrome.

21 January 2018

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Joubert syndrome and related disorders: spectrum of neuroimaging findings in 75 patients.

21 January 2018

1 reference

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NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders.

21 January 2018

1 reference

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Midline defects of the orofaciodigital syndrome type VI (Váradi syndrome).

21 January 2018

1 reference

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Rare association of Hirschsprung's disease and Joubert syndrome

21 January 2018

1 reference

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Situs inversus and hirschsprung disease: two uncommon manifestations in Bardet-Biedl syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-7-4

The face of Joubert syndrome: a study of dysmorphology and anthropometry.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-7-4

GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-7-4

GLI3 is rarely implicated in OFD syndromes with midline abnormalities

21 January 2018

3 references

https://api.crossref.org/works/10.1186%2F1750-1172-7-4

21 January 2018

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3313869

28 October 2018

12 December 2020

Interpeduncular Heterotopia in Joubert Syndrome: A Previously Undescribed MR Finding

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-7-4

Malformations of cerebral cortical development in oral-facial-digital syndrome type VI.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3313869

Joubert syndrome: long-term follow-up

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3313869

MR imaging and spectroscopic study of epileptogenic hypothalamic hamartomas: analysis of 72 cases.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3313869

Oral–facial–digital syndromes: Review and diagnostic guidelines

28 October 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-7-4

Varadi-Papp syndrome: report of a case

21 January 2018

1 reference

12 December 2020

Prenatal diagnosis of episodic tachypnea in an infant with OFD VI

1 reference

12 December 2020

What to call a syndrome.

1 reference

12 December 2020

Dandy-Walker malformation, occipital meningoencephalocele, meso-axial polydactyly and bifid hallux

1 reference

12 December 2020

Identifiers

DOI

10.1186/1750-1172-7-4

1 reference

Dimensions Publication ID

31 July 2017

1016875565

0 references

Fatcat ID

release_bec2qlecsbbapmycrexptr667e

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/bec2qlecsbbapmycrexptr667e

24 November 2022

mapped directly with Wikidata item

PMCID

3313869

1 reference

31 July 2017

1 reference