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

Author

NISHIMURA, Darryl Y¹ ; SEARBY, Charles C¹ ; HAIDER, Neena B⁷ ; KWITEK-BLACK, Anne E⁸ ; LIHUA YING¹ ; DUHL, David M⁹ ; GORMAN, Susan W⁹ ; HEON, Elise¹⁰ ; IANNACCONE, Alessandro¹¹ ; BONNEAU, Dominique¹² ; BIESECKER, Leslie G¹³ ; JACOBSON, Samuel G¹⁴ ; CARMI, Rivka² ; STONE, Edwin M¹⁵ ; SHEFFIELD, Val C¹ ; ELBEDOUR, Khalil² ; VAN MALDERGEM, Lionel³ ; FULTON, Anne B⁴ ; LAM, Byron L⁵ ; POWELL, Berkley R⁶ ; SWIDERSKI, Ruth E¹ ; BUGGE, Kevin E¹
[1] Department of Pediatrics and Howard Hughes Medical Institute, University of Iowa, Iowa City, IA 52242, United States
[2] Soroka Medical Center, Ben-Gurion University of the Negev, Beer-Sheva, Israel
[3] Centre de Genetique Humaine, Institute de Pathologie et de Genetique, Loverval, Belgium
[4] Department of Ophthalmology, Children's Hospital and Harvard Medical School, Boston, MA, United States
[5] Bascom Palmer Eye Institute, Miami, FL 33136, United States
[6] Valley Children's Hospital, Madera, CA 93638, United States
[7] The Jackson Laboratory, Bar Harbor, ME 04609, United States
[8] Medical College of Wisconsin, Milwaukee, WI 53226, United States
[9] Chiron Corporation, Emeryville, CA 94608, United States
[10] Vision Science Research Program, Toronto Western Research Institute, Toronto, Canada
[11] Department of Ophthalmology, University of Tennessee Health Science Center, Memphis, TN 38103, United States
[12] Department of Medical Genetics, University of Poitiers, Poitiers, France
[13] National Human Genome Research Institute, The National Institutes of Health, Bethesda, MD 20892, United States
[14] Scheie Eye Institute, Philadelphia, PA 19104, United States
[15] Department of Ophthalmology, University of Iowa, Iowa City, IA 52242, United States

Source

Human molecular genetics (Print). 2001, Vol 10, Num 8, pp 865-874 ; ref : 23 ref

ISSN

0964-6906

Scientific domain

Genetics

Publisher

Oxford University Press, Oxford

Publication country

United Kingdom

Document type

Article

Language

English

Keyword (fr)

Carte génétique Carte physique Chromosome E16 Etude familiale Gène Homme Homologie Laurence Moon Bardet Biedl syndrome Malformation Multigène Mutation Organisation gène Séquence nucléotide Appareil génital pathologie Endocrinopathie Obésité Oeil pathologie Système nerveux pathologie Système ostéoarticulaire pathologie Trouble nutrition

Keyword (en)

Genetic mapping Physical map Chromosome E16 Family study Gene Human Homology Laurence Moon Bardet Biedl syndrome Malformation Multigene family Mutation Gene organization Nucleotide sequence Genital diseases Endocrinopathy Obesity Eye disease Nervous system diseases Diseases of the osteoarticular system Nutrition disorder

Keyword (es)

Mapa genético Mapa físico Cromosoma E16 Estudio familiar Gen Hombre Homología Laurence Moon Bardet Biedl síndrome Malformación Multigén Mutación Organización gene Secuencia nucleótido Aparato genital patología Endocrinopatía Obesidad Ojo patología Sistema nervioso patología Sistema osteoarticular patología Trastorno nutricíon

Classification

Pascal

002 Biological and medical sciences / 002B Medical sciences / 002B23 Medical genetics / 002B23E Complex syndromes

Discipline

Medical genetics

Origin

Inist-CNRS

Database

PASCAL

INIST identifier

1022766

Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS