(Q34743361)

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A review of the literature of Bardet-Biedl disease and report of three cases associated with metabolic syndrome and diagnosed after the age of fifty

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Europe PubMed Central

PubMed publication ID

4 August 2017

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Europe PubMed Central

A review of the literature of Bardet-Biedl disease and report of three cases associated with metabolic syndrome and diagnosed after the age of fifty (English)

1 reference

Europe PubMed Central

PubMed publication ID

4 August 2017

metabolic syndrome

1 reference

based on heuristic

inferred from title

Bardet-Biedl syndrome

1 reference

based on heuristic

inferred from title

author name string

Iannello S

1

1 reference

Europe PubMed Central

PubMed publication ID

4 August 2017

Bosco P

2

1 reference

Europe PubMed Central

PubMed publication ID

4 August 2017

Cavaleri A

3

1 reference

Europe PubMed Central

PubMed publication ID

4 August 2017

Camuto M

4

1 reference

Europe PubMed Central

PubMed publication ID

4 August 2017

Milazzo P

5

1 reference

Europe PubMed Central

PubMed publication ID

4 August 2017

Belfiore F

6

1 reference

Europe PubMed Central

PubMed publication ID

4 August 2017

publication date

1 May 2002

1 reference

Europe PubMed Central

PubMed publication ID

4 August 2017

Obesity Reviews

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Europe PubMed Central

PubMed publication ID

4 August 2017

3

1 reference

Europe PubMed Central

PubMed publication ID

4 August 2017

2

1 reference

Europe PubMed Central

PubMed publication ID

4 August 2017

123-135

1 reference

Europe PubMed Central

PubMed publication ID

4 August 2017

Sex chromosome aneuploidy and Bardet-Biedl syndrome

1 reference

https://api.crossref.org/works/10.1046%2FJ.1467-789X.2002.00055.X

21 January 2018

The cardinal manifestations of Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome

1 reference

https://api.crossref.org/works/10.1046%2FJ.1467-789X.2002.00055.X

21 January 2018

Visual acuities and dark-adapted thresholds of children with Bardet-Biedl syndrome

1 reference

https://api.crossref.org/works/10.1046%2FJ.1467-789X.2002.00055.X

21 January 2018

Prevalence of retinitis pigmentosa and allied disorders in Denmark. II. Systemic involvement and age at onset

1 reference

https://api.crossref.org/works/10.1046%2FJ.1467-789X.2002.00055.X

21 January 2018

Natural course of visual functions in the Bardet-Biedl syndrome

1 reference

https://api.crossref.org/works/10.1046%2FJ.1467-789X.2002.00055.X

21 January 2018

Clinical pathology and retinal vascular structure in the Bardet-Biedl syndrome

1 reference

https://api.crossref.org/works/10.1046%2FJ.1467-789X.2002.00055.X

21 January 2018

Cystic kidney dysplasia and polydactyly in 3 sibs with Bardet-Biedl syndrome

1 reference

https://api.crossref.org/works/10.1046%2FJ.1467-789X.2002.00055.X

21 January 2018

Obesity, hypertension, and renal disease in relatives of Bardet-Biedl syndrome sibs

1 reference

https://api.crossref.org/works/10.1046%2FJ.1467-789X.2002.00055.X

21 January 2018

Bardet-Biedl syndrome and related disorders

1 reference

https://api.crossref.org/works/10.1046%2FJ.1467-789X.2002.00055.X

21 January 2018

Genetic heterogeneity of Bardet-Biedl syndrome in a distinct Canadian population: evidence for a fifth locus

1 reference

https://api.crossref.org/works/10.1046%2FJ.1467-789X.2002.00055.X

21 January 2018

Autosomal recessive disorders among Arabs: an overview from Kuwait

1 reference

https://api.crossref.org/works/10.1046%2FJ.1467-789X.2002.00055.X

21 January 2018

Bardet-Biedl syndrome: a molecular and phenotypic study of 18 families

1 reference

https://api.crossref.org/works/10.1046%2FJ.1467-789X.2002.00055.X

21 January 2018

Autosomal recessive diseases among Palestinian Arabs

1 reference

https://api.crossref.org/works/10.1046%2FJ.1467-789X.2002.00055.X

21 January 2018

Genital abnormalities in females with Bardet-Biedl syndrome

1 reference

https://api.crossref.org/works/10.1046%2FJ.1467-789X.2002.00055.X

21 January 2018

Early diagnosis of Bardet-Biedl syndrome

1 reference

https://api.crossref.org/works/10.1046%2FJ.1467-789X.2002.00055.X

21 January 2018

Evaluation and molecular characterization of EHD1, a candidate gene for Bardet-Biedl syndrome 1 (BBS1)

1 reference

https://api.crossref.org/works/10.1046%2FJ.1467-789X.2002.00055.X

21 January 2018

Bardet-Biedl syndrome is linked to DNA markers on chromosome 11q and is genetically heterogeneous.

1 reference

https://api.crossref.org/works/10.1046%2FJ.1467-789X.2002.00055.X

21 January 2018

Linkage mapping in 29 Bardet-Biedl syndrome families confirms loci in chromosomal regions 11q13, 15q22.3-q23, and 16q21.

1 reference

https://api.crossref.org/works/10.1046%2FJ.1467-789X.2002.00055.X

21 January 2018

Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15

1 reference

https://api.crossref.org/works/10.1046%2FJ.1467-789X.2002.00055.X

21 January 2018

Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity

1 reference

https://api.crossref.org/works/10.1046%2FJ.1467-789X.2002.00055.X

21 January 2018

Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping

1 reference

https://api.crossref.org/works/10.1046%2FJ.1467-789X.2002.00055.X

21 January 2018

Intrafamilial variation of the phenotype in Bardet-Biedl syndrome

1 reference

https://api.crossref.org/works/10.1046%2FJ.1467-789X.2002.00055.X

21 January 2018

A founder effect in the newfoundland population reduces the Bardet-Biedl syndrome I (BBS1) interval to 1 cM

1 reference

https://api.crossref.org/works/10.1046%2FJ.1467-789X.2002.00055.X

21 January 2018

Delineation of the critical interval of Bardet-Biedl syndrome 1 (BBS1) to a small region of 11q13, through linkage and haplotype analysis of 91 pedigrees

1 reference

https://api.crossref.org/works/10.1046%2FJ.1467-789X.2002.00055.X

21 January 2018

The molecular genetics of Bardet-Biedl syndrome

1 reference

https://api.crossref.org/works/10.1046%2FJ.1467-789X.2002.00055.X

21 January 2018

Bardet-Biedl syndrome: aspects of nephro-urology and human genetics

1 reference

https://api.crossref.org/works/10.1046%2FJ.1467-789X.2002.00055.X

21 January 2018

Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2)

1 reference

https://api.crossref.org/works/10.1046%2FJ.1467-789X.2002.00055.X

21 January 2018

Identification of the gene that, when mutated, causes the human obesity syndrome BBS4.

1 reference

https://api.crossref.org/works/10.1046%2FJ.1467-789X.2002.00055.X

21 January 2018

A fifth locus for Bardet-Biedl syndrome maps to chromosome 2q31

1 reference

https://api.crossref.org/works/10.1046%2FJ.1467-789X.2002.00055.X

21 January 2018

Significant association between a silent polymorphism in the neuromedin B gene and body weight in German children and adolescents

1 reference

https://api.crossref.org/works/10.1046%2FJ.1467-789X.2002.00055.X

21 January 2018

Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome

1 reference

https://api.crossref.org/works/10.1046%2FJ.1467-789X.2002.00055.X

21 January 2018

Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci

1 reference

https://api.crossref.org/works/10.1046%2FJ.1467-789X.2002.00055.X

21 January 2018

Cloning of a novel C-terminal kinesin (KIFC3) that maps to human chromosome 16q13-q21 and thus is a candidate gene for Bardet-Biedl syndrome

1 reference

https://api.crossref.org/works/10.1046%2FJ.1467-789X.2002.00055.X

21 January 2018

The cloning and developmental expression of unconventional myosin IXA (MYO9A) a gene in the Bardet-Biedl syndrome (BBS4) region at chromosome 15q22-q23

1 reference

https://api.crossref.org/works/10.1046%2FJ.1467-789X.2002.00055.X

21 January 2018

The syndrome of Laurence-Moon-Bardet-Biedl and allied diseases in Switzerland. Clinical, genetic and epidemiological studies

1 reference

https://api.crossref.org/works/10.1046%2FJ.1467-789X.2002.00055.X

21 January 2018

Tibia vara in a patient with Bardet-Biedl syndrome

1 reference

https://api.crossref.org/works/10.1046%2FJ.1467-789X.2002.00055.X

21 January 2018

Evaluation of the hypothalamic-pituitary-gonadal function in the Bardet-Biedl syndrome

1 reference

https://api.crossref.org/works/10.1046%2FJ.1467-789X.2002.00055.X

21 January 2018

Empty sellae, impaired testosterone secretion, and defective hypothalamic-pituitary growth and gonadal axes in children with Bardet-Biedl syndrome

1 reference

https://api.crossref.org/works/10.1046%2FJ.1467-789X.2002.00055.X

21 January 2018

Dental abnormalities as a component of the Laurence-Moon-Bardet-Biedl syndrome

1 reference

https://api.crossref.org/works/10.1046%2FJ.1467-789X.2002.00055.X

21 January 2018

Renal vascular abnormalities in Bardet-Biedl syndrome.

1 reference

https://api.crossref.org/works/10.1046%2FJ.1467-789X.2002.00055.X

21 January 2018

Laurence-Moon-Biedl syndrome. Report of two unrelated children less than 3 years of age.

1 reference

https://api.crossref.org/works/10.1046%2FJ.1467-789X.2002.00055.X

21 January 2018

The renal lesion of the Laurence-Moon-Biedl syndrome

1 reference

https://api.crossref.org/works/10.1046%2FJ.1467-789X.2002.00055.X

21 January 2018

The Spectrum of Renal Disease in Laurence–Moon–Biedl Syndrome

1 reference

https://api.crossref.org/works/10.1046%2FJ.1467-789X.2002.00055.X

21 January 2018

Early sonographic aspects of kidney morphology in Bardet-Biedl syndrome

1 reference

https://api.crossref.org/works/10.1046%2FJ.1467-789X.2002.00055.X

21 January 2018

Sonographic and urographic correlation in Bardet-Biedl syndrome (formerly Laurence-Moon-Biedl syndrome).

1 reference

https://api.crossref.org/works/10.1046%2FJ.1467-789X.2002.00055.X

21 January 2018

Renal Transplantation in the Bardet-Biedl Syndrome, A Form of Laurence-Moon-Biedl Syndrome

1 reference

https://api.crossref.org/works/10.1046%2FJ.1467-789X.2002.00055.X

21 January 2018

Cardiac abnormalities in the Bardet-Biedl syndrome: echocardiographic studies of 22 patients

1 reference

https://api.crossref.org/works/10.1046%2FJ.1467-789X.2002.00055.X

21 January 2018

Mutations in MKKS cause Bardet-Biedl syndrome

1 reference

https://api.crossref.org/works/10.1046%2FJ.1467-789X.2002.00055.X

21 January 2018

A family with the Bardet-Biedl syndrome and diabetes mellitus

1 reference

https://api.crossref.org/works/10.1046%2FJ.1467-789X.2002.00055.X

21 January 2018

Liver fibrocystic disease and polydactyly: proposal of a new syndrome.

1 reference

https://api.crossref.org/works/10.1046%2FJ.1467-789X.2002.00055.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1046%2FJ.1467-789X.2002.00055.X

21 January 2018

Obesity in heterozygous carriers of the gene for the Bardet-Biedl syndrome

1 reference

https://api.crossref.org/works/10.1046%2FJ.1467-789X.2002.00055.X

21 January 2018

Prenatal diagnosis of Bardet-Biedl syndrome by targeted second-trimester sonography.

1 reference

https://api.crossref.org/works/10.1046%2FJ.1467-789X.2002.00055.X

21 January 2018

A patient with features of both Bardet-Biedl and Alström syndromes

1 reference

https://api.crossref.org/works/10.1046%2FJ.1467-789X.2002.00055.X

21 January 2018

Refinement of genetic localization of the Alström syndrome on chromosome 2p12-13 by linkage analysis in a North African family.

1 reference

https://api.crossref.org/works/10.1046%2FJ.1467-789X.2002.00055.X

21 January 2018

Alström syndrome: further evidence for linkage to human chromosome 2p13.

1 reference

https://api.crossref.org/works/10.1046%2FJ.1467-789X.2002.00055.X

21 January 2018

DNA methylation based testing of 450 patients suspected of having Prader-Willi syndrome

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https://api.crossref.org/works/10.1046%2FJ.1467-789X.2002.00055.X

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Coloboma, mental retardation, hypogonadism, and obesity: critical review of the so-called Biemond syndrome type 2, updated nosology, and delineation of three "new" syndromes

1 reference

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Prader-Willi and other syndromes associated with obesity and mental retardation

1 reference

https://api.crossref.org/works/10.1046%2FJ.1467-789X.2002.00055.X

21 January 2018

Alström syndrome. Report of 22 cases and literature review

1 reference

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Abdominal obesity and the metabolic syndrome

1 reference

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Abdominal fat and insulin resistance in normal and overweight women: Direct measurements reveal a strong relationship in subjects at both low and high risk of NIDDM.

1 reference

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Response of insulin, glucagon, lactate, and nonesterified fatty acids to glucose in visceral obesity with and without NIDDM: relationship to hypertension

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21 January 2018

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10.1046/J.1467-789X.2002.00055.X

1 reference

Europe PubMed Central

PubMed publication ID

4 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

4 August 2017

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