(Q34892431)

5 August 2017

The FG syndromes (Online Mendelian Inheritance in Man 305450): perspective in 2008. (English)

1 reference

5 August 2017

1

John M Opitz

1 reference

5 August 2017

James F Smith

2

1 reference

PubMed ID

19048730

5 August 2017

Lucia Santoro

series ordinal

3

1 reference

5 August 2017

1 January 2008

1 reference

5 August 2017

Advances in pediatrics

1 reference

5 August 2017

55

1 reference

5 August 2017

123-170

1 reference

A filamin A splice mutation resulting in a syndrome of facial dysmorphism, periventricular nodular heterotopia, and severe constipation reminiscent of cerebro-fronto-facial syndrome

5 August 2017

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2008.07.014

Filamin A mutation is one cause of FG syndrome.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2008.07.014

Studies of malformation syndromes of man XXXIII: The FG syndrome. An X-linked recessive syndrome of multiple congenital anomalies and mental retardation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2008.07.014

The FG syndrome: Further characterization, report of a third family, and of a sporadic case

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2008.07.014

Studies of malformation syndromes of humans XXXIIIC: the FG syndrome - further studies on three affected individuals from the FG family.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2008.07.014

Behavior phenotype of FG syndrome: cognition, personality, and behavior in eleven affected boys

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2008.07.014

A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2008.07.014

The FG syndrome: report of a large Italian series.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2008.07.014

A gene for FG syndrome maps in the Xq12-q21.31 region

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2008.07.014

Skewed X chromosome inactivation in carriers is not a constant finding in FG syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2008.07.014

The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2008.07.014

Paracentric inversion of the X chromosome [inv(X)(q12q28)] in familial FG syndrome.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2008.07.014

Mapping of X chromosome inversion breakpoints [inv(X)(q11q28)] associated with FG syndrome: a second FG locus [FGS2]?

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2008.07.014

Exclusion of nine candidate genes for their involvement in X-linked FG syndrome (FGS1) in three families

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2008.07.014

FG syndrome: linkage analysis in two families supporting a new gene localization at Xp22.3 [FGS3].

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2008.07.014

Genetic heterogeneity of FG syndrome: a fourth locus (FGS4) maps to Xp11.4-p11.3 in an Italian family.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2008.07.014

An Xq22.3 duplication detected by comparative genomic hybridization microarray (Array-CGH) defines a new locus (FGS5) for FG syndrome.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2008.07.014

Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2008.07.014

Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2008.07.014

Closing the (Ran)GAP on segregation distortion in Drosophila

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2008.07.014

The centromere paradox: stable inheritance with rapidly evolving DNA.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2008.07.014

Distortion of female meiotic segregation and reduced male fertility in human Robertsonian translocations: consistent with the centromere model of co-evolving centromere DNA/centromeric histone (CENP-A)

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2008.07.014

Evidence for extensive transmission distortion in the human genome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2008.07.014

Sex-specific meiotic drive and selection at an imprinted locus

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2008.07.014

A new X-linked syndrome with agenesis of the corpus callosum, mental retardation, coloboma, micrognathia, and a mutation in the Alpha 4 gene at Xq13.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2008.07.014

The neurofaciodigitorenal (NFDR) syndrome.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2008.07.014

A new X-linked mental retardation syndrome.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2008.07.014

Fragile X family with unusual digital and facial abnormalities, cleft lip and palate, and epilepsy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2008.07.014

Daughter and her mildly affected father with Keipert syndrome.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2008.07.014

Keipert syndrome in two brothers from Turkey

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2008.07.014

Broad thumbs and halluces with deafness: a patient with Keipert syndrome.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2008.07.014

Diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, and sensorineural deafness: a newly recognized autosomal recessive disorder?

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2008.07.014

Craniocervical anomalies in Dubowitz syndrome. Three cases and a literature review

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2008.07.014

Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2008.07.014

Genitourinary anomalies of pediatric FG syndrome.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2008.07.014

Transitory hypogammaglobulinemia of infancy in FG syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2008.07.014

Inside the mind of a savant

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2008.07.014

inferred from DOI database lookup

7 January 2021

based on heuristic

Syndrome of mental retardation, seizures, hypotonic cerebral palsy and megalocorneae, recessively inherited

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2008.07.014

inferred from DOI database lookup

7 January 2021

based on heuristic

The Dubowitz syndrome

1 reference

https://api.crossref.org/works/10.1016%2FJ.YAPD.2008.07.014

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1016/J.YAPD.2008.07.014

1 reference

5 August 2017

1 reference

PubMed ID

19048730