Absence makes the search grow longer.
作者信息
Dobyns W B
出版信息
Am J Hum Genet. 1996 Jan;58(1):7-16.
Abstract
摘要
相似文献
1
Absence makes the search grow longer.求之不得，寤寐思服。
Am J Hum Genet. 1996 Jan;58(1):7-16.
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Language and development in FG syndrome with callosal agenesis.伴有胼胝体发育不全的FG综合征中的语言与发育
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Short arm deletion of chromosome 18.18号染色体短臂缺失
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Ring chromosome 14 complicated with complex partial seizures and hypoplastic corpus callosum.14号环状染色体合并复杂部分性癫痫和胼胝体发育不全。
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Agenesis of the corpus callosum in Schinzel-Giedion syndrome associated with 47,XXY karyotype.与47,XXY核型相关的申泽尔-吉迪恩综合征中的胼胝体发育不全。
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Chromosome 1q42 deletion and agenesis of the corpus callosum.1号染色体长臂42区缺失与胼胝体发育不全
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[Identification of 2 familial translocations].[2个家族性易位的鉴定]
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Fine mapping the candidate region for peripheral neuropathy with or without agenesis of the corpus callosum in the French Canadian population.在法裔加拿大人群中精细定位伴有或不伴有胼胝体发育不全的周围神经病变候选区域。
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A mentally retarded child with a translocation involving chromosomes 12 and 19.一名患有涉及12号和19号染色体易位的智力迟钝儿童。
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Sonographic Development of the Pericallosal Vascularization in the First and Early Second Trimester of Pregnancy.妊娠 1 至 2 早孕期胼胝体旁血管化的超声发育。
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本文引用的文献
1
HEREDITARY PARTIAL AGENESIS OF CORPUS CALLOSUM; BIOCHEMICAL AND PATHOLOGICAL STUDIES.遗传性胼胝体部分发育不全；生物化学与病理学研究。
Arch Neurol. 1964 Aug;11:198-208. doi: 10.1001/archneur.1964.00460200094009.
2
3
A new case of partial trisomy 19q (q13.2-->qter) owing to an unusual maternal translocation.一例因罕见的母亲染色体易位导致的19q部分三体（q13.2→qter）新病例。
J Med Genet. 1993 Aug;30(8):697-9. doi: 10.1136/jmg.30.8.697.
4
Familial white matter hypoplasia, agenesis of the corpus callosum, mental retardation and growth deficiency: a new distinctive syndrome.家族性脑白质发育不全、胼胝体发育不全、智力发育迟缓及生长发育不足：一种新的独特综合征。
Neuropediatrics. 1993 Apr;24(2):77-82. doi: 10.1055/s-2008-1071518.
5
Mosaic tetrasomy 8p.8p 染色体镶嵌性三体性
Am J Med Genet. 1993 Jun 15;46(5):513-6. doi: 10.1002/ajmg.1320460510.
6
Agenesis of the corpus callosum associated with MASA syndrome.胼胝体发育不全与MASA综合征相关。
Clin Dysmorphol. 1993 Oct;2(4):332-41.
7
8
Occurrence of Andermann syndrome out of French Canada--agenesis of the corpus callosum with neuronopathy.法属加拿大以外地区安德曼综合征的发生——胼胝体发育不全伴神经元病。
Neuropediatrics. 1993 Apr;24(2):107-10. doi: 10.1055/s-2008-1071524.
9
Autosomal recessive microcephaly, microcornea, congenital cataract, mental retardation, optic atrophy, and hypogenitalism. Micro syndrome.常染色体隐性小头畸形、小角膜、先天性白内障、智力发育迟缓、视神经萎缩和生殖器发育不全。米克罗综合征。
Am J Dis Child. 1993 Dec;147(12):1309-12. doi: 10.1001/archpedi.1993.02160360051017.
10
Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization.小眼畸形伴线性皮肤缺损（MLS）综合征：临床、细胞遗传学及分子特征
Am J Med Genet. 1994 Jan 15;49(2):229-34. doi: 10.1002/ajmg.1320490214.
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