CCMG practice guideline: laboratory guidelines for next-generation sequencing.

abstract：:Disease associated balanced chromosomal rearrangements (DBCRs), which truncate, delete, or otherwise inactivate specific genes, have been instrumental for positional cloning of many disease genes. A network of cytogenetic laboratories, Mendelian Cytogenetics Network (MCN), has been established to facilitate the identi...

journal_title：Journal of medical genetics

authors： Bugge M,Bruun-Petersen G,Brøndum-Nielsen K,Friedrich U,Hansen J,Jensen G,Jensen PK,Kristoffersson U,Lundsteen C,Niebuhr E,Rasmussen KR,Rasmussen K,Tommerup N

更新日期：2000-11-01 00:00:00

abstract：OBJECTIVES:To evaluate the feasibility of a reduced counselling programme for predictive genetic testing for hereditary non-polyposis colorectal cancer (HNPCC) in terms of counsellees' opinions on the extent and significance of genetic counselling and need for psychological support at different phases of the testing pr...

journal_title：Journal of medical genetics

authors： Aktan-Collan K,Mecklin JP,de la Chapelle A,Peltomäki P,Uutela A,Kääriäinen H

更新日期：2000-02-01 00:00:00

abstract：:Rubinstein-Taybi syndrome (RTS) is a well delineated multiple congenital anomaly syndrome characterised by mental retardation, broad thumbs and toes, short stature, and specific facial features. The recent localisation of the disorder to 16p13.3 and subsequent identification of a submicroscopic deletion of this region...

journal_title：Journal of medical genetics

authors： Wallerstein R,Anderson CE,Hay B,Gupta P,Gibas L,Ansari K,Cowchock FS,Weinblatt V,Reid C,Levitas A,Jackson L

更新日期：1997-03-01 00:00:00

abstract：:Chromosome and enzyme determinations were performed in 250 pregnancies between the 7th and the 12th week of gestation. The majority of the tests were performed for risk of chromosomal abnormalities and 75% of the women were 35 years old or more. We describe a chorionic villi sampling (CVS) technique which proved to be...

journal_title：Journal of medical genetics

authors： Brambati B,Simoni G,Danesino C,Oldrini A,Ferrazzi E,Romitti L,Terzoli G,Rossella F,Ferrari M,Fraccaro M

更新日期：1985-04-01 00:00:00

abstract：BACKGROUND:Progeroid syndromes are genetic disorders that recapitulate some phenotypes of physiological ageing. Classical progerias, such as Hutchinson-Gilford progeria syndrome (HGPS), are generally caused by mutations in LMNA leading to accumulation of the toxic protein progerin and consequently, to nuclear envelope ...

journal_title：Journal of medical genetics

authors： Soria-Valles C,Carrero D,Gabau E,Velasco G,Quesada V,Bárcena C,Moens M,Fieggen K,Möhrcken S,Owens M,Puente DA,Asensio Ó,Loeys B,Pérez A,Benoit V,Wuyts W,Lévy N,Hennekam RC,De Sandre-Giovannoli A,López-Otín C

更新日期：2016-11-01 00:00:00

abstract：:A 2-year-old boy with macrocephaly, communicating hydrocephalus, and mild hepatosplenomegaly was found to have mild Hunter syndrome (MPS II). Establishment of the latter diagnosis was complicated by the paucity of obvious physical findings because of the patient's young age and his ethnic origin. ...

journal_title：Journal of medical genetics

authors： Yatziv S,Epstein CJ

更新日期：1977-12-01 00:00:00

abstract：:In this paper the costs and benefits associated with DNA diagnosis of subjects who are at risk of having a child with a monogenic disease and who seek genetic counselling because of their reproductive plans are predicted under various assumptions using a mathematical model. Four monogenic diseases have been considered...

journal_title：Journal of medical genetics

authors： van der Riet AA,van Hout BA,Rutten FF

更新日期：1997-09-01 00:00:00

abstract：:The phenotypic and quantitative relationship of red cell acid phosphatase with haemoglobin, haptoglobin, and G6PD phenotypes was investigated in three populations in the Sudan and one population in Nilgiris, India. No significant consistent association of red cell acid phosphatase phenotypes was observed with these po...

journal_title：Journal of medical genetics

authors： Saha N,Patgunarajah N

更新日期：1981-08-01 00:00:00

abstract：:A malformed female infant is described. In addition to cardiac, renal, and skeletal (rib) anomalies, severe intrauterine growth retardation and distinct facial dysmorphism were present. The question is raised whether this child represents a new syndrome. ...

journal_title：Journal of medical genetics

authors： de Die-Smulders CE,Droog RP,van Dijk M,Fryns JP

更新日期：1993-06-01 00:00:00

abstract：BACKGROUND:In total, 43 patients having short stature syndrome in 37 Yakut families with autosomal recessive prenatal and postnatal nonprogressive growth failure and facial dysmorphism but with normal intelligence have been identified. METHODS:Because Yakuts are considered as a population isolate and the disease is ra...

journal_title：Journal of medical genetics

authors： Maksimova N,Hara K,Miyashia A,Nikolaeva I,Shiga A,Nogovicina A,Sukhomyasova A,Argunov V,Shvedova A,Ikeuchi T,Nishizawa M,Kuwano R,Onodera O

更新日期：2007-12-01 00:00:00

abstract：:A large tuberous sclerosis multigenerational family segregating with markers on chromosome 9q from the TSC1 region was studied with a new highly polymorphic marker (designated A6) from the region. A critical affected person showed recombination with the marker, eliminating approximately 100 kilobases from the telomeri...

journal_title：Journal of medical genetics

authors： Au KS,Murrell J,Buckler A,Blanton SH,Northrup H

更新日期：1996-07-01 00:00:00

abstract：BACKGROUND:Biallelic germline mutations in the mismatch repair genes MLH1, MSH2, MSH6 or PMS2 cause a recessive childhood cancer syndrome characterised by early-onset malignancies and signs reminiscent of neurofibromatosis type 1 (NF1). Alluding to the underlying genetic defect, we refer to this syndrome as constitutio...

journal_title：Journal of medical genetics

authors： Kratz CP,Holter S,Etzler J,Lauten M,Pollett A,Niemeyer CM,Gallinger S,Wimmer K

更新日期：2009-06-01 00:00:00

abstract：:Congenital heart defects are a major congenital abnormality and are assuming increasing importance. A study was undertaken to estimate the incidence of congenital heart defects in Northern Ireland over a five year period (1974-1978), to determine the age at diagnosis and to assess the risk of recurrence in sibs. An in...

journal_title：Journal of medical genetics

authors： Hanna EJ,Nevin NC,Nelson J

更新日期：1994-11-01 00:00:00

abstract：:The risk of breast cancer for unaffected men who test positive for a BRCA2 mutation is based on very few retrospective studies. We have used both retrospective and prospective analysis in 321 families with pathogenic BRCA2 mutations. Three breast cancers occurred in male first-degree relatives after family ascertainme...

journal_title：Journal of medical genetics

authors： Evans DG,Susnerwala I,Dawson J,Woodward E,Maher ER,Lalloo F

更新日期：2010-10-01 00:00:00

abstract：:We report on three Dutch children with a clinical diagnosis of oculoauriculovertebral spectrum (OAVS) and hydrocephalus. The clinical features are compared to 15 published cases of OAVS and hydrocephalus. Several other cerebral abnormalities were present in the whole group. About half of the cases had cleft lip/palate...

journal_title：Journal of medical genetics

authors： Schrander-Stumpel CT,de Die-Smulders CE,Hennekam RC,Fryns JP,Bouckaert PX,Brouwer OF,da Costa JJ,Lommen EJ,Maaswinkel-Mooy PD

更新日期：1992-05-01 00:00:00

abstract：:The search for the genes responsible for many complex genetic diseases is well under way and has already been successful in some cases. The study of cancer as a complex genetic disease has lagged behind other conditions, largely because of particular problems that are associated with malignant disease. Cancer also, ho...

journal_title：Journal of medical genetics

authors： Houlston RS,Tomlinson IP

更新日期：2000-03-01 00:00:00

abstract：:Germline mutations in four human mismatch repair genes (MSH2, MLH1, PMS1, and PMS2) have been reported to cause hereditary non-polyposis colon cancer syndrome (HNPCC). The identification of germline mutations in HNPCC kindreds allows precise diagnosis and accurate predictive testing. To investigate further the genetic...

journal_title：Journal of medical genetics

authors： Froggatt NJ,Brassett C,Koch DJ,Evans DG,Hodgson SV,Ponder BA,Maher ER

更新日期：1996-09-01 00:00:00

abstract：BACKGROUND:Familial haemophagocytic lymphohistiocytosis (FHL) has an autosomal recessive mode of inheritance and consists of at least three subtypes. FHL2 subtype with perforin (PRF1) mutation accounts for 30% of all FHL cases, while FHL with MUNC13-4 mutation was recently identified and designated as FHL3 subtype. OB...

journal_title：Journal of medical genetics

authors： Yamamoto K,Ishii E,Sako M,Ohga S,Furuno K,Suzuki N,Ueda I,Imayoshi M,Yamamoto S,Morimoto A,Takada H,Hara T,Imashuku S,Sasazuki T,Yasukawa M

更新日期：2004-10-01 00:00:00

abstract：:The cap capacity in nine Duchenne muscular dystrophy (DMD) patients and in 23 healthy male subjects (14 adults and nine neonates) has been investigated by inducing capping of HLA molecules. The evaluation of capping percentages ranged in healthy controls from 44 to 61 with a mean value of 53.39 +/- 4.89, while DMD pat...

journal_title：Journal of medical genetics

authors： Sensi A,Venturoli A,Traniello S,Lucci M,Vullo C,Conighi C,Mattiuz PL,Båricordi OR

更新日期：1984-06-01 00:00:00

abstract：:A large body of data on segregating families is used to generate specific recurrence risks conditional on sex and birth order for the best-fitting model of polygenes plus maternal effect. The method is general for diseases of complex inheritance, and lies within the competence of any serious genetic clinic. The questi...

journal_title：Journal of medical genetics

authors： Lalouel JM,Morton NE,MacLean CJ,Jackson J

更新日期：1977-12-01 00:00:00

abstract：BACKGROUND:DLG5 p.R30Q has been reported to be associated with Crohn disease (CD), but this association has not been replicated in most studies. A recent analysis of gender-stratified data from two case-control studies and two population cohorts found an association of DLG5 30Q with increased risk of CD in men but not ...

journal_title：Journal of medical genetics

authors： Browning BL,Annese V,Barclay ML,Bingham SA,Brand S,Büning C,Castro M,Cucchiara S,Dallapiccola B,Drummond H,Ferguson LR,Ferraris A,Fisher SA,Gearry RB,Glas J,Henckaerts L,Huebner C,Knafelz D,Lakatos L,Lakatos PL,La

更新日期：2008-01-01 00:00:00

abstract：:A family with the EEC syndrome is reported. Two sibs have the classical form of the condition with ectrodactyly, ectodermal dysplasia, and clefting. Their mother, however, has only minimal evidence, with preaxial polydactyly of the right hand and duplication of the terminal phalanx of the second toe of the left foot w...

journal_title：Journal of medical genetics

authors： Tse K,Temple IK,Baraitser M

更新日期：1990-12-01 00:00:00

abstract：BACKGROUND:Genomic imprinting is a process causing genes to be expressed according to parental origin. Imprinting acts to coordinate fetal and prenatal growth, as well as control postnatal adaptations. Studies on human imprinting are confounded by tissue availability, sampling variability and limitations posed by tissu...

journal_title：Journal of medical genetics

authors： Lim AL,Ng S,Leow SC,Choo R,Ito M,Chan YH,Goh SK,Tng E,Kwek K,Chong YS,Gluckman PD,Ferguson-Smith AC

更新日期：2012-11-01 00:00:00

abstract：:DNA fingerprinting was performed to verify the pedigree structure of a family under investigation for an unusual case of beta thalassaemia. A higher than expected proportion of hypervariable bands was shared by the proband and his mother, leading to suspicion that the child had been the product of a consanguineous mat...

journal_title：Journal of medical genetics

authors： Wells RA,Wonke B,Thein SL

更新日期：1988-10-01 00:00:00

abstract：BACKGROUND:The 5α-reductase type 2 (5α-RD2) deficiency caused by mutations in the steroid 5α-reductase 2 (SRD5A2) gene results in variable degrees of undervirilisation in patients with 46,XY disorders of sex development. This study aims to profile the regional distribution and phenotype-genotype characteristics of SRD5...

journal_title：Journal of medical genetics

authors： Gui B,Song Y,Su Z,Luo FH,Chen L,Wang X,Chen R,Yang Y,Wang J,Zhao X,Fan L,Liu X,Wang Y,Chen S,Gong C

更新日期：2019-10-01 00:00:00

abstract：:We present a male infant with hypertelorism, severe myopia and sensorineural deafness, diaphragmatic hernia, and proteinuria. This patient combines features of two distinct genetic conditions, the syndrome of diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, and sensorineural deafness (M...

journal_title：Journal of medical genetics

authors： Devriendt K,Standaert L,Van Hole C,Devlieger H,Fryns JP

更新日期：1998-01-01 00:00:00

abstract：:Cleidocranial dysplasia (CCD) (MIM 119600) is an autosomal dominant skeletal dysplasia characterised by abnormal clavicles, patent sutures and fontanelles, supernumerary teeth, short stature, and a variety of other skeletal changes. The disease gene has been mapped to chromosome 6p21 within a region containing CBFA1, ...

journal_title：Journal of medical genetics

authors： Mundlos S

更新日期：1999-03-01 00:00:00

abstract：:It is well known that subjects homozygous for a rare silent allele of ADA may experience a severe combined immunodeficiency. By analogy we have investigated the possible relationship of normal ADA polymorphism with some situations, such as reproductive defects and fetomaternal interactions, in which immunological mech...

journal_title：Journal of medical genetics

authors： Bottini E,Carapella E,Cataldi L,Nicotra M,Lucarelli P,Lucarini N,Pascone R,Gloria-Bottini F

更新日期：1981-10-01 00:00:00

abstract：BACKGROUND:The non-POU domain containing octamer-binding gene (NONO) is located on chromosome Xq13.1 and encodes a member of a small family of RNA-binding and DNA-binding proteins that perform a variety of tasks involved in RNA synthesis, transcriptional regulation and DNA repair. Loss-of-function variants in NONO have...

journal_title：Journal of medical genetics

authors： Scott DA,Hernandez-Garcia A,Azamian MS,Jordan VK,Kim BJ,Starkovich M,Zhang J,Wong LJ,Darilek SA,Breman AM,Yang Y,Lupski JR,Jiwani AK,Das B,Lalani SR,Iglesias AD,Rosenfeld JA,Xia F

更新日期：2017-01-01 00:00:00

abstract：:A family is recorded in which Duchenne's muscular dystrophy and protan colour blindness are segregating. Of 4 members of the second generation at least one is a recombinant. The lod scores have been calculated and added to those already published. ...

journal_title：Journal of medical genetics

authors： Greig DN

更新日期：1977-04-01 00:00:00