Chromosome Deletion < Chromosome Disorders < Chromosome Mapping

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List of bibliographic references

Number of relevant bibliographic references: 39.
[0-20] [0 - 20][0 - 39][20-38][20-40]

Ident.	Authors (with country if any)	Title
001331 (2011)	Markus C. Kowarik ; Sabine Langer ; Corinna Keri ; Bernhard Hemmer ; Konrad Oexle ; Juliane Winkelmann	Myoclonus-dystonia in 18p deletion syndrome.
002A77 (2006)	Christina Sobin ; Samantha H. Monk ; Karen Kiley-Brabeck ; Jananne Khuri ; Maria Karayiorgou	Neuromotor deficits in children with the 22q11 deletion syndrome.
002F87 (2005)	Chiara Criscuolo ; Francesco Saccà ; Giuseppe De Michele ; Pietro Mancini ; Onofre Combarros ; Jon Infante ; Antonio Garcia ; Sandro Banfi ; Alessandro Filla ; José Berciano	Novel mutation of SACS gene in a Spanish family with autosomal recessive spastic ataxia.
003217 (2005)	Kenju Hara ; Osamu Onodera ; Minoru Endo ; Hiroshi Kondo ; Hiroshi Shiota ; Kenji Miki ; Naoyuki Tanimoto ; Tetsuya Kimura ; Masatoyo Nishizawa	Sacsin-related autosomal recessive ataxia without prominent retinal myelinated fibers in Japan.
003281 (2005)	Pablo Mir ; Mark J. Edwards ; Andrew R J. Curtis ; Kailash P. Bhatia ; Niall P. Quinn	Adult-onset generalized dystonia due to a mutation in the neuroferritinopathy gene.
003D00 (2001)	T. Perniola ; L. Margari ; M G De Iaco ; A. Presicci ; P. Ventura ; E. Ferrannini ; G. Illiceto	Familial paroxysmal exercise-induced dyskinesia, epilepsy, and mental retardation in a family with autosomal dominant inheritance.
003F55 (2000)	T. Klockgether ; U. Wüllner ; A. Spauschus ; B. Evert	The molecular biology of the autosomal-dominant cerebellar ataxias.
003F66 (2000)	J J Higgins ; K. Kluetzman ; J. Berciano ; O. Combarros ; J M Loveless	Posterior column ataxia and retinitis pigmentosa: a distinct clinical and genetic disorder.
004025 (2000)	A. Schrag ; N P Quinn ; K P Bhatia ; C D Marsden	Benign hereditary chorea--entity or syndrome?
004125 (1999)	E. Cassetta ; N. Del Grosso ; A R Bentivoglio ; E M Valente ; M. Frontali ; A. Albanese	Italian family with cranial cervical dystonia: clinical and genetic study.
004136 (1999)	H R Morris ; A J Lees ; N W Wood	Neurofibrillary tangle parkinsonian disorders--tau pathology and tau genetics.
004279 (1999)	A. Lazzarini ; A S Walters ; K. Hickey ; G. Coccagna ; E. Lugaresi ; B L Ehrenberg ; D L Picchietti ; M F Brin ; E S Stenroos ; T. Verrico ; W G Johnson	Studies of penetrance and anticipation in five autosomal-dominant restless legs syndrome pedigrees.
004299 (1998)	J J Higgins ; J M Loveless ; J. Jankovic ; P I Patel	Evidence that a gene for essential tremor maps to chromosome 2p in four families.
004348 (1998)	M. Bakar ; M. Zarifoglu ; I. Bora ; F. Turan ; C. Sen ; E. Ogul	Treatment of hereditary trembling chin with botulinum toxin.
004368 (1998)	E. Silber ; J. Kromberg ; J A Temlett ; A. Krause ; D. Saffer	Huntington's disease confirmed by genetic testing in five African families.
004399 (1998)	R. Djaldetti ; I. Ziv ; E. Melamed	Extreme anticipation in young-onset Parkinson's disease.
004462 (1998)	M G Hanna ; M B Davis ; M G Sweeney ; M. Noursadeghi ; C J Ellis ; P. Elliot ; N W Wood ; C D Marsden	Generalized chorea in two patients harboring the Friedreich's ataxia gene trinucleotide repeat expansion.
004554 (1997)	B. Leube ; K R Kessler ; T. Goecke ; G. Auburger ; R. Benecke	Frequency of familial inheritance among 488 index patients with idiopathic focal dystonia and clinical variability in a large family.
004559 (1997)	J P Hubble ; K L Busenbark ; R. Pahwa ; K. Lyons ; W C Koller	Clinical expression of essential tremor: effects of gender and age.
004574 (1997)	J J Higgins ; L T Pho ; L E Nee	A gene (ETM) for essential tremor maps to chromosome 2p22-p25.
004577 (1997)	W C Koller	Essential tremor: the beginning of a new era.

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