(Q36095457)

12 August 2017

1 reference

title

Chromosomal abnormalities and glaucoma: a case of congenital glaucoma with trisomy 8q22-qter/ monosomy 9p23-pter (English)

1 reference

12 August 2017

0 references

David A Mackey

6

0 references

Jamie E Craig

series ordinal

5

object named as

Jamie E Craig

1 reference

12 August 2017

3

Ravi Savarirayan

1 reference

12 August 2017

Amy C Cohn

1

1 reference

PubMed ID

15823925

12 August 2017

Lisa S Kearns

series ordinal

2

1 reference

PubMed ID

15823925

12 August 2017

Jacinta Ryan

series ordinal

4

1 reference

12 August 2017

1 March 2005

1 reference

12 August 2017

1 reference

12 August 2017

26

1 reference

12 August 2017

1

1 reference

12 August 2017

45-53

1 reference

CHROMOSOME DELETION IN A CASE OF RETINOBLASTOMA.

12 August 2017

1 reference

https://api.crossref.org/works/10.1080%2F13816810590918398

A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810590918398

Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810590918398

The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810590918398

A balanced de novo X/autosome translocation in a girl with manifestations of Lowe syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810590918398

Genetic and physical mapping of Xq24-q26 markers flanking the Lowe oculocerebrorenal syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810590918398

A third locus (GLC1D) for adult-onset primary open-angle glaucoma maps to the 8q23 region

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810590918398

Localization of the fourth locus (GLC1E) for adult-onset primary open-angle glaucoma to the 10p15-p14 region

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810590918398

Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (Buphthalmos) in families linked to the GLC3A locus on chromosome 2p21

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810590918398

Identification of a gene that causes primary open angle glaucoma.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810590918398

Adult-onset primary open-angle glaucoma caused by mutations in optineurin

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810590918398

Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810590918398

The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810590918398

A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810590918398

Chromosomal duplication involving the forkhead transcription factor gene FOXC1 causes iris hypoplasia and glaucoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810590918398

Evidence for genetic heterogeneity within eight glaucoma families, with the GLC1A Gln368STOP mutation being an important phenotypic modifier.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810590918398

Genome-wide scan for adult onset primary open angle glaucoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810590918398

PITs and FOXes in ocular genetics: the Cogan lecture.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810590918398

Molecular genetics of Axenfeld-Rieger malformations

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810590918398

A family with Axenfeld-Rieger syndrome and Peters Anomaly caused by a point mutation (Phe112Ser) in the FOXC1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810590918398

Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810590918398

Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810590918398

Molecular characterisation of congenital glaucoma in a consanguineous Canadian community: a step towards preventing glaucoma related blindness

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810590918398

Genetic linkage of autosomal dominant primary open angle glaucoma to chromosome 3q in a Greek pedigree.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810590918398

A case of trisomy 3q21?qter syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810590918398

Chromosomal localization of six human forkhead genes, freac-1 (FKHL5), -3 (FKHL7), -4 (FKHL8), -5 (FKHL9), -6 (FKHL10), and -8 (FKHL12)

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810590918398

Autosomal dominant Axenfeld-Rieger anomaly maps to 6p25

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810590918398

Linkage of Rieger syndrome to the region of the epidermal growth factor gene on chromosome 4

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810590918398

Evidence that Rieger syndrome maps to 4q25 or 4q27

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810590918398

Fusion of a fork head domain gene to PAX3 in the solid tumour alveolar rhabdomyosarcoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810590918398

Familial glaucoma iridogoniodysplasia maps to a 6p25 region implicated in primary congenital glaucoma and iridogoniodysgenesis anomaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810590918398

Familial isolated aniridia associated with a translocation involving chromosomes 11 and 22 [t(11;22)(p13;q12.2)].

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810590918398

Wilms's tumour and aniridia: clinical and cytogenetic features

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810590918398

Computer-assisted analysis of chromosomal abnormalities: detection of a deletion in aniridia-Wilms' tumor syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810590918398

Rieger's syndrome with pericentric inversion of chromosome 6.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810590918398

Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A)

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810590918398

Autosomal dominant nanophthalmos (NNO1) with high hyperopia and angle-closure glaucoma maps to chromosome 11

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810590918398

Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810590918398

Anterior segment dysgenesis and congenital glaucoma associated with partial trisomy of chromosome 1 (1q32-qter).

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810590918398

Mutations in SLC4A4 cause permanent isolated proximal renal tubular acidosis with ocular abnormalities

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810590918398

Molecular and clinical characterization of a patient with a chromosome 4p deletion, Wolf-Hirschhorn syndrome, and congenital glaucoma.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810590918398

A novel hereditary developmental vitreoretinopathy with multiple ocular abnormalities localizing to a 5-cM region of chromosome 5q13-q14.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810590918398

A, 1;6, translocation associated with congenital glaucoma and cleft lip and palate

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810590918398

Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810590918398

Stickler's syndrome associated with congenital glaucoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810590918398

In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810590918398

Ocular features in Rubinstein-Taybi syndrome: investigation of 24 patients and review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810590918398

Glaucoma in siblings with Morquio syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810590918398

X-linked mental retardation syndrome with short stature, small hands and feet, seizures, cleft palate, and glaucoma is linked to Xq28.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810590918398

Genetic linkage of familial open angle glaucoma to chromosome 1q21–q31

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810590918398

Linkage of posterior polymorphous corneal dystrophy to 20q11

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810590918398

10.1080/13816810590918398

21 January 2018

Identifiers

DOI

1 reference

12 August 2017

1 reference

PubMed ID

15823925