The autosomal recessive nonsyndromic deafness locus DFNB72 is located on chromosome 19p13.3.

abstract：:Copy number variation has emerged as an important cause of phenotypic variation, particularly in relation to some complex disorders. Autism spectrum disorder (ASD) is one such disorder, in which evidence is emerging for an etiological role for some rare penetrant de novo and rare inherited copy number variants (CNVs)....

journal_title：Human genetics

authors： Woodbury-Smith M,Paterson AD,Thiruvahindrapduram B,Lionel AC,Marshall CR,Merico D,Fernandez BA,Duku E,Sutcliffe JS,O'Conner I,Chrysler C,Thompson A,Kellam B,Tammimies K,Walker S,Yuen RK,Uddin M,Howe JL,Parlier M,Whi

更新日期：2015-02-01 00:00:00

abstract：:Using a heteroduplex approach and direct sequencing, we have completed the screening of approximately 88% of the neurofibromatosis type 2 (NF2)-coding sequence of DNA extracted from 33 schwannomas from NF2 patients and from 29 patients with sporadic schwannomas. The extensive screening has resulted in the identificati...

journal_title：Human genetics

authors： Welling DB,Guida M,Goll F,Pearl DK,Glasscock ME,Pappas DG,Linthicum FH,Rogers D,Prior TW

更新日期：1996-08-01 00:00:00

abstract：:Sample of 981 and 998 South African Negroes belonging to seven different ethnic groups were screened for G-6-PD and 6-PGD phenotypes, respectively. The results are discussed in terms of the interethnic variability and the possible adaptive values of these genetic polymorphisms. Particular attention is paid to the geog...

journal_title：Human genetics

authors： Hitzeroth HW,Bender K

更新日期：1980-01-01 00:00:00

abstract：:Trust may be important in shaping public attitudes to genetics and intentions to participate in genomics research and big data initiatives. As such, we examined trust in data sharing among the general public. A cross-sectional online survey collected responses from representative publics in the USA, Canada, UK and Aus...

journal_title：Human genetics

authors： Milne R,Morley KI,Howard H,Niemiec E,Nicol D,Critchley C,Prainsack B,Vears D,Smith J,Steed C,Bevan P,Atutornu J,Farley L,Goodhand P,Thorogood A,Kleiderman E,Middleton A,Participant Values Work Stream of the Global Allia

更新日期：2019-12-01 00:00:00

abstract：:Restriction endonucleases have been recently proved to be active on fixed chromosomes, thus they are useful in chromatin structure studies. Within this class of enzymes, Alu I is able to detect the presence and localization of highly repetitive DNA sequences in human and in other mammalian and dipteran species. In thi...

journal_title：Human genetics

authors： De Stefano GF,Romano E,Ferrucci L

更新日期：1986-03-01 00:00:00

abstract：:The case of a newborn girl with Zellweger syndrome and a pericentric inversion of chromosome 7, 46,XX, inv(7)(p12q11.23), is reported. The diagnosis was confirmed by marked deficiency of peroxisomal beta-oxidation enzymes in hepatic cells from autopsy samples. This is the second case of Zellweger syndrome associated w...

journal_title：Human genetics

authors： Naritomi K,Izumikawa Y,Ohshiro S,Yoshida K,Shimozawa N,Suzuki Y,Orii T,Hirayama K

更新日期：1989-12-01 00:00:00

abstract：:Peripheral blood sister chromatid exchange (SCE) rates in chronic cigarette smokers and in subjects with cancer do not differ from those in healthy nonsmokers. SCE patterns were normal in 69 chronic cigarette smokers, including 62 patients with untreated lung cancer. In three chronic smokers with lung cancer, high SCE...

journal_title：Human genetics

authors： Hollander DH,Tockman MS,Liang YW,Borgaonkar DS,Frost JK

更新日期：1978-10-31 00:00:00

abstract：:A woman with a balanced translocation t(3;11)(p27;q23) has had three abnormal children. The first child died in infancy, and of the two survivors who show segregation of the derivative maternal translocated chromosomes, one exhibits partial trisomy 11q and the other partial monosomy 11q. The two cases are compared wit...

journal_title：Human genetics

authors： Ridler MA,McKeown JA

更新日期：1979-11-01 00:00:00

abstract：:Muenke syndrome, also known as FGFR3-associated coronal synostosis, is defined molecularly by the presence of a heterozygous nucleotide transversion, c.749C>G, encoding the amino acid substitution Pro250Arg, in the fibroblast growth factor receptor type 3 gene (FGFR3). This frequently occurs as a new mutation, manifes...

journal_title：Human genetics

authors： Rannan-Eliya SV,Taylor IB,De Heer IM,Van Den Ouweland AM,Wall SA,Wilkie AO

更新日期：2004-08-01 00:00:00

abstract：:A reciprocal translocation involving chromosomes Nos. 3 and 22 has been found in a patient with seemingly Ph-negative chronic myelogenous leukemia (CML). G-band analysis revealed, that deletion in No. 22 occurred at the same point, as in the typical cases of the disease. It was concluded, that breakage in No. 22 at a ...

journal_title：Human genetics

authors： Pravtcheva D,Andreeva P,Tsaneva R

更新日期：1976-05-19 00:00:00

abstract：:An increased frequency of mitoses with centromere separation affecting all chromosomes was found in lymphocyte cultures from a couple with recurrent spontaneous abortions. The phenomenon was observed in both the wife and husband. The abnormal behaviour of centromeres may predispose the individual to cell division erro...

journal_title：Human genetics

authors： Bajnóczky K,Gardó S

更新日期：1993-10-01 00:00:00

abstract：:We describe a 17-month-old infant with clinical features of Down syndrome and a normal karyotype by standard chromosomal analysis, her two uncles aged 28 and 30 years, respectively, with reduced intelligence and unusual appearance but not apparent Down syndrome, and a severely retarded 6-year-old girl with dysmorphy a...

journal_title：Human genetics

authors： Bartsch O,Hinkel GK,Petersen MB,König U,Bugge M,Mikkelsen M,Avramopoulos D,Morris M,Antonarakis SE

更新日期：1997-10-01 00:00:00

abstract：:Although the occurrence of bladder cancer is common, the molecular events underlying the pathogenesis of this cancer remain ill-defined. A loss of heterozygosity (LOH) at specific chromosomal loci may predispose individuals to the development of bladder cancer but this has not been examined in detail. Furthermore, the...

journal_title：Human genetics

authors： Shipman R,Schraml P,Colombi M,Raefle G,Ludwig CU

更新日期：1993-06-01 00:00:00

abstract：:A family is reported in which the mother and two sons are carriers of a Y-to-X translocation, der (X)t(X;Y) (p22;q11). All the the three carriers have short stature and disproportion of extremities, but otherwise normal phenotype. One of the sons, the propositus, has been affected with schizophrenia. Evidence was obta...

journal_title：Human genetics

authors： Yamada K,Nanko S,Hattori S,Isurugi K

更新日期：1982-01-01 00:00:00

abstract：:Cytogenetic studies were carried out on 150 oocytes obtained in a human in vitro fertilization (IVF) program. Although all cells lacked signs of fertilization at light microscopy, 46 (30.7%) appeared to show cytological evidence of fertilization. At least one-third of these cells (with development arrested before firs...

journal_title：Human genetics

authors： Pieters MH,Geraedts JP,Dumoulin JC,Evers JL,Bras M,Kornips FH,Menheere PP

更新日期：1989-03-01 00:00:00

abstract：:Birth weight has been shown to be associated with obesity and metabolic diseases in adulthood, however, the genetic contribution is still controversial. The objective of this analysis is to explore the genetic contribution to the relationship between birth weight and later risk for obesity and metabolic diseases in Hi...

journal_title：Human genetics

authors： Cai G,Cole SA,Haack K,Butte NF,Comuzzie AG

更新日期：2007-07-01 00:00:00

abstract：:It has been demonstrated that the genetic polymorphism of human serum orosomucoid (ORM) is controlled by polymorphic ORM1 and monomorphic ORM2 loci. In this study a Japanese family was encountered in which several members had puzzling electrophoretic patterns consisting of four bands. The ORM patterns were due to the ...

journal_title：Human genetics

authors： Yuasa I,Suenaga K,Umetsu K,Ito K,Robinet-Levy M

更新日期：1987-11-01 00:00:00

abstract：:Silver-Russell syndrome (SRS) is a clinically heterogeneous disorder characterised by severe in utero growth restriction and poor postnatal growth, body asymmetry, irregular craniofacial features and several additional minor malformations. The aetiology of SRS is complex and current evidence strongly implicates imprin...

journal_title：Human genetics

authors： Prickett AR,Ishida M,Böhm S,Frost JM,Puszyk W,Abu-Amero S,Stanier P,Schulz R,Moore GE,Oakey RJ

更新日期：2015-03-01 00:00:00

abstract：:Tay-Sachs disease (TSD) is an inherited neurodegenerative ganglioside storage disorder caused by deficiency of the hexosaminidase A enzyme. A deletion allele (FCD) at the HEXA locus has attained high frequency in the French Canadian population. The distribution of affected probands shows a likely center of diffusion f...

journal_title：Human genetics

authors： De Braekeleer M,Hechtman P,Andermann E,Kaplan F

更新日期：1992-04-01 00:00:00

abstract：:Translocation t(11;22)(q23;q11) is the most common constitutional reciprocal translocation in man. Balanced carriers are phenotypically normal, except for decreased fertility, an increased spontaneous abortion rate and a possible predisposition to breast cancer in some families. Here, we report the high resolution map...

journal_title：Human genetics

authors： Tapia-Páez I,O'Brien KP,Kost-Alimova M,Sahlén S,Kedra D,Bruder CE,Andersson B,Roe BA,Hu P,Imreh S,Blennow E,Dumanski JP

更新日期：2000-05-01 00:00:00

abstract：:Oocyte loss has a significant impact on fertility and somatic health. Yet, we know little about factors that impact this process. We sought to identify genetic variants associated with ovarian reserve (oocyte number as measured by antral follicle count, AFC). Based on recently published genome-wide scans that identifi...

journal_title：Human genetics

authors： Schuh-Huerta SM,Johnson NA,Rosen MP,Sternfeld B,Cedars MI,Reijo Pera RA

更新日期：2012-11-01 00:00:00

abstract：:In order to approach preimplantation testing for the fragile-X syndrome, we used genotyping of the polymorphic RS46(DXS548) locus closely linked to the FMR-1 gene, in single reproductive cells of females. The RS46(DXS548) amplification was adjusted to the single cell level by a two-round polymerase chain reaction (PCR...

journal_title：Human genetics

authors： Dreesen JC,Geraedts JP,Dumoulin JC,Evers JL,Pieters MH

更新日期：1995-09-01 00:00:00

abstract：:The karyotypes of more than 60 species of Primates are studied and compared, with the use of almost all existing banding techniques. There is a very close analogy of chromosome banding between the Simians studied and man. The quantitative or qualitative variations detected all involve the heterochromatin. It is very l...

journal_title：Human genetics

authors： Dutrillaux B

更新日期：1979-05-10 00:00:00

abstract：:Cowden disease is an autosomal dominant disorder associated with an elevated risk of breast, thyroid and skin cancers, in which germline mutations of a tumour suppressor gene (PTEN) have been identified. PTEN has a dual-specificity tyrosine phosphatase domain thought to be essential for tumour suppression. Previous ge...

journal_title：Human genetics

authors： Raizis AM,Ferguson MM,George PM

更新日期：2000-07-01 00:00:00

abstract：:Acute intermittent porphyria (AIP) is a low-penetrant autosomal dominant disorder caused by mutations in the hydroxymethylbilane synthase (HMBS) gene. Direct detection of mutations is becoming the method of choice for the accurate identification of asymptomatic affected individuals within AIP families so that they can...

journal_title：Human genetics

authors： Whatley SD,Woolf JR,Elder GH

更新日期：1999-06-01 00:00:00

abstract：:Cytochrome c oxidase (COX) deficiency causes a variety of neuromuscular and non-neuromuscular disorders in childhood and adulthood and can theoretically undergo either a nuclear or a mitochondrial (mt) mode of inheritance, making genetic counseling in COX deficiency particularly hazardous. In an attempt to determine t...

journal_title：Human genetics

authors： Parfait B,Percheron A,Chretien D,Rustin P,Munnich A,Rötig A

更新日期：1997-12-01 00:00:00

abstract：:A new mutant alpha-1-antichymotrypsin (variant ACT) was found by polymerase chain reaction single strand conformation polymorphism and direct sequencing. In this variant ACT, two bases (AA) were deleted from codon 391. This resulted in a different amino acid sequence downstream of the deletion point, elongating the pe...

journal_title：Human genetics

authors： Tsuda M,Sei Y,Matsumoto M,Kamiguchi H,Yamamoto M,Shinohara Y,Igarashi T,Yamamura M

更新日期：1992-12-01 00:00:00

abstract：:To elucidate the mechanism of lipid metabolism in the genesis of essential hypertension (EH), we linked blood pressure (BP) phenotypes with the lipoprotein lipase (LPL) gene. Variance component and sib-pair linkage models were used to test the relationship of the polymorphisms in the LPL gene region and EH in 148 Chin...

journal_title：Human genetics

authors： Yang W,Huang J,Ge D,Yao C,Duan X,Shen Y,Qiang B,Gu D

更新日期：2004-06-01 00:00:00

abstract：:Hereditary ovalocytosis in Papua New Guinea is restricted to areas of endemic malaria and may confer increased resistance to the disease. The incidence of malaria was investigated in 1616 Melanesiams of known red cell morphology and severity of infection determined in a smaller subsample. Ovalocytics tended to be more...

journal_title：Human genetics

authors： Serjeantson S,Bryson K,Amato D,Babona D

更新日期：1977-06-30 00:00:00

abstract：:With rapid developments in genomic and digital technologies, genomic data sharing has become a key issue for the achievement of precision medicine in South Korea. The legal and administrative framework for data sharing and protection in this country is currently under intense scrutiny from national and international s...

journal_title：Human genetics

authors： Kim H,Kim SY,Joly Y

更新日期：2018-08-01 00:00:00