Zobrazeno 1 - 10
of 39
pro vyhledávání: '"S M Jalal"'
Publikováno v:
Clinical Genetics. 33:356-359
Partial trisomy 6p with duplications ranging from 6p21 to 6p25–pter is emerging as an established syndrome. We report a case of duplication of 6p (6p23–pter) and deletion of 2q37–qter. Features characteristic of 6p partial trisomy present in th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::232659dc057c237c1faf4bb115750008
https://doi.org/10.1111/j.1399-0004.1988.tb03462.x
https://doi.org/10.1111/j.1399-0004.1988.tb03462.x
Publikováno v:
Journal of Intellectual Disability Research. 34:205-210
A case report of a 33-year-old woman wich atypical bipolar disorder, autistic disorder, profound mental retardation and a chromosomal anomaly is presented. This patient is behaviourally similar to a patient reported by Akuffo et al. (1986), who appar
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c5a18ae0ed99f94ba0a9b7ac05650530
https://doi.org/10.1111/j.1365-2788.1990.tb01530.x
https://doi.org/10.1111/j.1365-2788.1990.tb01530.x
Publikováno v:
Mayo Clinic Proceedings. 73:132-137
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8fc2cb763aa5e84d474fd1054e4a8b03
https://doi.org/10.4065/73.2.132
https://doi.org/10.4065/73.2.132
Autor:
E M, Ocio, R F J, Schop, B, Gonzalez, S A, Van Wier, J M, Hernandez-Rivas, N C, Gutierrez, R, Garcia-Sanz, M J, Moro, C, Aguilera, J, Hernandez, R, Xu, P R, Greipp, A, Dispenzieri, S M, Jalal, M Q, Lacy, N, Gonzalez-Paz, M A, Gertz, J F, San Miguel, R, Fonseca
Publikováno v:
British journal of haematology. 136(1)
Fluorescence in situ hybridisation (FISH) is an effective technique for the cytogenetic analysis of Waldenström macroglobulinemia (WM), but the potential impact of molecular cytogenetics on disease evolution and as a prognostic marker is still unkno
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::fd2a22e8b616c8011b7bd19981c13d45
https://pubmed.ncbi.nlm.nih.gov/17222197
https://pubmed.ncbi.nlm.nih.gov/17222197
Autor:
S. M. Jalal, R. P. Ketterling
Publikováno v:
Atlas of Human Chromosome Heteromorphisms ISBN: 9789048162963
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::93b69b55c7ae9b9be4fa800526e0eede
https://doi.org/10.1007/978-94-017-0433-5_6
https://doi.org/10.1007/978-94-017-0433-5_6
Publikováno v:
Clinical genetics. 61(3)
The present authors report the case of a 12-year-old-boy with a de novo, non-mosaic supernumerary ring chromosome 7 associated with significant developmental delay and speech difficulty. A review of the literature identified a total of 18 cases with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a358f6582ddab28320c318513f6c98f3
https://pubmed.ncbi.nlm.nih.gov/12000362
https://pubmed.ncbi.nlm.nih.gov/12000362
Publikováno v:
Molecular psychiatry. 6(4)
Velo-cardio-facial syndrome (VCFS) has been associated with schizophrenic symptoms in some patients and is caused by a deletion of 22q11.21--q11.23. The voltage-gated calcium channel (VGCC) gamma 2 subunit is located on chromosome 22 and is telemeric
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e363834f56221602bb1022fe2c3418f1
https://pubmed.ncbi.nlm.nih.gov/11443534
https://pubmed.ncbi.nlm.nih.gov/11443534
Publikováno v:
Prenatal diagnosis. 20(2)
We describe two families in which an inherited interstitial deletion is present without apparent associated phenotypic abnormalities. The first deletion was discovered in a 19-year-old male with a previously diagnosed peroxisomal disorder. High-resol
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b7e6eb8480401f18ac0f59f6ed1a2217
https://pubmed.ncbi.nlm.nih.gov/10694687
https://pubmed.ncbi.nlm.nih.gov/10694687
Publikováno v:
American journal of medical genetics. 90(2)
We describe two de novo cases of extra r(8) confirmed by fluorescent in situ hybridization (FISH). Based on these two and eight additional cases of extra r(8) confirmed by FISH, the phenotype is better documented. One of our patients had minor facial
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::2acd115cd9dcbfea5e2c6b42012fa6e2
https://pubmed.ncbi.nlm.nih.gov/10607957
https://pubmed.ncbi.nlm.nih.gov/10607957
Autor:
R, Fonseca, G J, Ahmann, S M, Jalal, G W, Dewald, D R, Larson, T M, Therneau, M A, Gertz, R A, Kyle, P R, Greipp
Publikováno v:
British journal of haematology. 103(3)
Primary systemic amyloidosis (AL) is a plasma cell disorder characterized by deposition of monoclonal light chains in different organ systems. Although multiple and complex numerical chromosomal abnormalities have been described in patients with mult
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::3b13a2ce4e9668efbdbefa2699fde157
https://pubmed.ncbi.nlm.nih.gov/9858220
https://pubmed.ncbi.nlm.nih.gov/9858220