Two 22q telomere deletions serendipitously detected by FISH
about
Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndromeThe 22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome)Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptomsAngelman syndrome: a review of the clinical and genetic aspects22q13 deletion syndromePhelan-McDermid syndrome in two adult brothers: atypical bipolar disorder as its psychopathological phenotype?Prenatal diagnosis of mosaicism for a del(22)(q13).Perfect endings: a review of subtelomeric probes and their use in clinical diagnosisAngelman syndrome: mimicking conditions and phenotypes.Telomeres: a diagnosis at the end of the chromosomesClinical studies on submicroscopic subtelomeric rearrangements: a checklist.Molecular cytogenetic analysis of telomere rearrangements.22q13 deletion syndrome: an update and review for the primary pediatrician.Molecular and Clinical Aspects of Angelman Syndrome.A binding site outside the canonical PDZ domain determines the specific interaction between Shank and SAPAP and their function.Clinical and genetic aspects of Angelman syndrome.Angelman-Like Syndrome: A Genetic Approach to Diagnosis with Illustrative Cases.Detection of submicroscopic aberrations in patients with unexplained mental retardation by fluorescence in situ hybridization using multiple subtelomeric probes.Submicroscopic 8pter deletion, mild mental retardation, and behavioral problems caused by a familial t(8;20)(p23;p13).Micro-electrode array recordings reveal reductions in both excitation and inhibition in cultured cortical neuron networks lacking Shank3.Genetic evaluation of pervasive developmental disorders: the terminal 22q13 deletion syndrome may represent a recognizable phenotype.Subtle trisomy 12q24.3 and subtle monosomy 22q13.3: three new cases and review.No evidence for submicroscopic 22qter deletions in patients with features suggestive for Angelman syndrome.A boy with a submicroscopic 22qter deletion, general overgrowth and features suggestive of FG syndrome.Tandem translocation of chromosomes 22 and 15 with two preserved satellite stalk regions and deletion 22q13.3-qter.Clinical, cytogenetic, and molecular characterization of six patients with ring chromosomes 22, including one with concomitant 22q11.2 deletion.
P2860
Q24535749-FDB1854C-4818-4C8F-A3B7-37E492A8A5DAQ24612792-BAAF1CCD-B7BE-43B6-85D7-82DF958A819FQ24676539-20E3262A-4256-4EEB-B7AB-4B102424FEAFQ24678174-209CA3DA-164C-4DC4-B45A-7F51E6CAE062Q28200653-D24439DB-1EFB-4E67-BF0A-1E502EC6CAFDQ30010108-E66872F1-10F6-45A1-AF5A-00D0FFFD3DE8Q33892173-47B19DE9-DCB6-4D8D-BB69-E0C07AB4D143Q33941622-9F1A37B3-521A-4177-BAEA-B5A46240F555Q34245057-F7D917CF-BE23-4A3D-BFCF-2796701E8A7AQ35154981-9B715C48-FAAB-405C-9941-B2289DAFFC9CQ35437015-36135B41-E038-411D-BAD1-AF636007061FQ35540299-D4166DBF-E262-4A24-BBCE-DD0D6669AC6CQ35669501-523DA776-D268-4D33-91B7-74E32FDE00ADQ36006585-5AA844CF-ECDE-4F34-8DA1-8082EF540252Q36978168-FAA1F45A-75A7-4B2F-86BB-3CCA5B67E841Q37743131-7ED41B89-3AE2-4511-8D62-AA5F7DA0BD85Q38362615-4490FA6A-4B8F-4DEF-8365-BC7417CABE8FQ38491381-07EFE01A-FF58-41F2-ADA7-3A6AC56D05C3Q41923837-B86BDEC2-E0BE-42AA-8B49-28751CAAB008Q50308272-825E70CB-A8EE-4FC0-9049-54282E709D99Q50313091-CCC1ADD8-E9F5-46FF-B544-20F565002CA8Q51946915-7C132E87-2AC4-4C3E-9D43-896F5CDC4E10Q51957535-84FE991B-EEAD-4768-B283-D833632C78CCQ51970717-D1E44E2F-80D1-4EA8-A6FA-3C275D9177CAQ52126263-FDA676C6-385B-4E1F-915E-80B21F9523CAQ53059336-6925988E-34FF-417C-A446-3ABCC41E6B41
P2860
Two 22q telomere deletions serendipitously detected by FISH
description
1998 nî lūn-bûn
@nan
1998 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年学术文章
@wuu
1998年学术文章
@zh-cn
1998年学术文章
@zh-hans
1998年学术文章
@zh-my
1998年学术文章
@zh-sg
1998年學術文章
@yue
name
Two 22q telomere deletions serendipitously detected by FISH
@ast
Two 22q telomere deletions serendipitously detected by FISH
@en
type
label
Two 22q telomere deletions serendipitously detected by FISH
@ast
Two 22q telomere deletions serendipitously detected by FISH
@en
prefLabel
Two 22q telomere deletions serendipitously detected by FISH
@ast
Two 22q telomere deletions serendipitously detected by FISH
@en
P2093
P2860
P356
P1476
Two 22q telomere deletions serendipitously detected by FISH
@en
P2093
Christian SL
Huttenlocher PR
Johnston KM
Kittikamron K
Ledbetter DH
P2860
P304
P356
10.1136/JMG.35.11.939
P407
P577
1998-11-01T00:00:00Z