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Renal tubular dysgenesis, absent nipples, and multiple malformations in three brothers : A new, lethal syndrome

Author
HISAMA, F. M1 2 ; REYES-MUGICA, M3 4 ; WARGOWSKI, D. S5 ; THOMPSON, K. J6 ; MAHONEY, M. J1 3
[1] Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, United States
[2] Department of Neurology, Yale University School of Medicine, New Haven, Connecticut, United States
[3] Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut, United States
[4] Department of Pathology, Yale University School of Medicine, New Haven, Connecticut, United States
[5] Clinical Genetics Center, Department of Pediatrics, University of Wisconsin, Madison, Wisconsin, United States
[6] Cytogenetics Laboratory, Waisman Center, University of Wisconsin, Madison, Wisconsin, United States
Source

American journal of medical genetics. = Neuropsychiatric genetics. 1998, Vol 80, Num 4, pp 335-342 ; ref : 26 ref

CODEN
AJMGDA
ISSN
0148-7299
Scientific domain
Genetics
Publisher
Wiley-Liss, New York, NY
Publication country
United States
Document type
Article
Language
English
Keyword (fr)
Agénésie Biologie moléculaire Caractère létal Cytogénétique Dysgénésie Déterminisme génétique Etude cas Etude familiale Exploration Malformation Multiple Nouveau né Phénotype Sein Tubule rénal Chromosome marqueur Nouveau syndrome Appareil urinaire pathologie Glande mammaire pathologie Homme Maladie congénitale Néphropathie Syndrome complexe
Keyword (en)
Agenesis Molecular biology Lethal character Cytogenetics Dysgenesia Genetic determinism Case study Family study Exploration Malformation Multiple Newborn Phenotype Breast Renal tubule Marker chromosome New syndrome Urinary system disease Mammary gland diseases Human Congenital disease Nephropathy Complex syndrome
Keyword (es)
Agenesia Biología molecular Carácter letal Citogenética Disgenesia Determinismo genético Estudio caso Estudio familiar Exploración Malformación Múltiple Recién nacido Fenotipo Seno Túbulo renal Aparato urinario patología Glándula mamaria patología Hombre Enfermedad congénita Nefropatía Síndrome complejo
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
1608917

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

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