Abstract:
:Two unrelated patients, aged 19 and 6 years, were studied and diagnosed as having Myhre syndrome (MS). This review, together with three previous cases, permits further delineation of MS. The main features are: short stature, mental retardation, blepharophimosis, muscular hypertrophy, decreased joint mobility, thick calvarium, broad ribs, hypoplastic iliac wings and short tubular bones. Advanced paternal age at the propositi's birth suggests an autosomal dominant mutation as the cause of MS.
journal_name
Clin Genetjournal_title
Clinical geneticsauthors
García-Cruz D,Figuera LE,Feria-Velazco A,Sánchez-Corona J,García-Cruz MO,Ramírez-Duenãs RM,Hernandez-Córdova A,Ruiz MX,Bitar-Alatorre WE,Ramírez-Dueñas MLdoi
10.1111/j.1399-0004.1993.tb03880.xsubject
Has Abstract,Author List Incompletepub_date
1993-10-01 00:00:00pages
203-7issue
4eissn
0009-9163issn
1399-0004journal_volume
44pub_type
杂志文章abstract::46,XY gonadal dysgenesis was transmitted as an autosomal-dominant trait in a large family with multiple affected members. Expressivity of the trait was highly variable, ranging from pure to partial gonadal dysgenesis associated with normal female genitalia or sexual ambiguity, to mild hypospadias in otherwise normal m...
journal_title:Clinical genetics
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journal_title:Clinical genetics
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更新日期:1998-03-01 00:00:00
abstract::Amyotrophic lateral sclerosis (ALS) is a clinically and genetically heterogeneous fatal neurodegenerative disease. Around 10% of ALS cases are hereditary. ALS gene discoveries have provided most of our understanding of disease pathogenesis. We aimed to describe the genetic landscape of ALS in Australia by assessing 10...
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doi:10.1111/cge.12347
更新日期:2015-02-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1985.tb00232.x
更新日期:1985-05-01 00:00:00
abstract::Smoking behaviour is influenced by both genetic and environmental factors. Many years of twin and adoption studies have demonstrated that heritability is at least 50% responsible for both smoking initiation and smoking persistence. Furthermore, the extent, to which genetic and environmental factors contribute to smoki...
journal_title:Clinical genetics
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更新日期:2004-11-01 00:00:00
abstract::Major histocompatibility complex (MHC) haplotypes, including HLA-A, -B, -C and -DR and complotypes (BF, C2, C4A and C4B) were determined in a large family with inherited C4 deficiency. The propositus, a 12-year-old girl with complete C4 deficiency and SLE, had the MHC haplotypes HLA-A2,Cw3,-B40,-DR6,BFS,C2C,C4AQO,C4AB...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1985.tb02211.x
更新日期:1985-11-01 00:00:00
abstract::Cystic fibrosis in the northern sector of the French "département" of Finistère is 1:1787 live births. Within this sector a concentration of the disease was found in a small area. The minimal frequency in this area, from 1946 to 1972, was calculated as 1 per 377 live births, the gene frequency being 0.0515. Genealogic...
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pub_type: 杂志文章
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更新日期:1978-08-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
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更新日期:1977-05-01 00:00:00
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pub_type: 杂志文章
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更新日期:1981-05-01 00:00:00
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pub_type: 杂志文章
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更新日期:2018-10-01 00:00:00
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pub_type: 杂志文章
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更新日期:2003-09-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1034/j.1399-0004.1999.550209.x
更新日期:1999-02-01 00:00:00
abstract::CHARGE syndrome is a multiple congenital anomaly syndrome that can be life-threatening in the neonatal period. Complex heart defects, bilateral choanal atresia, esophageal atresia, severe T-cell deficiency, and brain anomalies can cause neonatal death. As little is known about the causes of death in childhood and adol...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.2009.01334.x
更新日期:2010-03-01 00:00:00
abstract::The ability or inability to taste the compound phenylthiocarbamide (PTC) is a classic inherited trait in humans and has been the subject of genetic and anthropological studies for over 70 years. This trait has also been shown to correlate with a number of dietary preferences and thus may have important implications fo...
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pub_type: 杂志文章,评审
doi:10.1111/j.1399-0004.2004.00361.x
更新日期:2005-04-01 00:00:00
abstract::From a large cohort of hyperlipidemic patients, who attended the Lipid Research Clinic in Amsterdam, The Netherlands and in Vancouver, Canada, 915 consecutive patients with familial hypercholesterolemia (FH) of Dutch descent, were selected. This group of FH patients was screened for the presence of a cytosine to thymi...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:
更新日期:1992-12-01 00:00:00
abstract::On the fifth day after subcultivation,, fibroblasts of two unrelated patients with adrenoleukodystrophy (Siemerling-Creutzfeldt disease (SCD)) developed typical morphologic anomalies which could be seen by light microscopy. From skin biopsy material of an obligatorily heterozygous womam, both normal and morphologicall...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1977.tb01287.x
更新日期:1977-02-01 00:00:00
abstract::The Schimmelpenning-Feuerstein-Mims syndrome (SFM), characterized by linear nevus sebaceous and ocular and neurologic abnormalities, is a sporadic condition without known familial cases or etiology. We report the occurrence of SFM in only one of two monozygotic (MZ) twins. After considering a variety of possible causa...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1996.tb02394.x
更新日期:1996-11-01 00:00:00
abstract::This report compares the pathogenetic influences of selective deletion and triplicaton of chromosome 13 derived from a familial 12;13 insertional translocation. In the proband a heritable chromosomal basis for his bilateral retinoblastomas is established [46,XY,del (13) (pter leads to q12.5: :q22.1 leads to qter)mat],...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1979.tb01743.x
更新日期:1979-04-01 00:00:00
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pub_type: 杂志文章
doi:10.1111/j.1399-0004.1977.tb00950.x
更新日期:1977-12-01 00:00:00
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pub_type: 杂志文章
doi:10.1111/j.1399-0004.2008.01101.x
更新日期:2009-02-01 00:00:00
abstract::Autosomal dominant polycystic kidney disease (ADPKD), is a heterogeneous disorder, primarily characterized by the formation of cysts in the kidneys, and the late development in life of progressive chronic kidney failure. Three genes are implicated in causing ADPKD. One on chromosome 16, PKD1, accounts for 85-90% of al...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1996.tb02339.x
更新日期:1996-07-01 00:00:00
abstract::Basic knowledge of genetics is essential for understanding genetic testing and counseling. The lack of a written, English language, validated, published measure has limited our ability to evaluate genetic knowledge of patients and families. Here, we begin the psychometric analysis of a true/false genetic knowledge mea...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.12618
更新日期:2016-02-01 00:00:00
abstract::The mitochondrial 1555A>G mutation is one of the most common mutations responsible for hearing loss in Asians. Although the association with aminoglycoside exposure is well known, there is great variation in the severity of hearing loss. We analyzed hearing levels in 221 Japanese individuals with this mutation and att...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.2008.01138.x
更新日期:2009-05-01 00:00:00
abstract::Lee S-C, Guo J-Y, Lim R, Soo R, Koay E, Salto-Tellez M, Leong A, Goh B-C. Clinical and molecular characteristics of hereditary non-polyposis colorectal cancer families in Southeast Asia. Hereditary non-polyposis colorectal cancer (HNPCC), predominantly due to germline MLH1/MSH2 mutations, is the commonest form of here...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.2005.00469.x
更新日期:2005-08-01 00:00:00
abstract::The aim of this study was to search for SLC40A1 mutations in iron overloaded patients, which tested negative for HFE mutations and other iron-related genes. After a careful differential diagnosis, we selected 56 patients with unexplained iron overload whose phenotype could suggest the ferroportin disease. Iron overloa...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.2007.00950.x
更新日期:2008-02-01 00:00:00
abstract::Identifying a mutation in a heterogeneous disease such as inherited cardiomyopathy is a challenge because classical methods, like linkage analysis, can often not be applied as there are too few meioses between affected individuals. However, if affected individuals share the same causal mutation, they will also share a...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.2010.01472.x
更新日期:2011-05-01 00:00:00
abstract::In the present paper we report the first example of fertility in a female with isodicentric X-formation and karyotype 45,X/46,X,del(X)(pter----p21.3)/46,X,idic(X)(qter----p21.3::p21.3- ---qter). Her daughter was phenotypically almost normal and presented a 46,X,del(X)(pter----p21.3) karyotype in all examined cells. ...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1988.tb02885.x
更新日期:1988-11-01 00:00:00
abstract::The genetic underpinnings of recessively inherited moderate to severe sensorineural hearing loss are not well understood, despite its higher prevalence in comparison to profound deafness. We recruited 92 consanguineous families segregating stable or progressive, recessively inherited moderate or severe hearing loss. W...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.12856
更新日期:2017-04-01 00:00:00
abstract::An abnormality of chromosome 16 in which there is extra genetic material present on the short arm (46,XY, 16p+) has been identified. This chromosomal aberration was associated with multiple congenital anomalies, including mid-facial hypoplasia, arthrogryposis, and mental retardation. On the basis of the cytogenetic ap...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1981.tb00665.x
更新日期:1981-01-01 00:00:00