Detecting low penetrance genes in cancer: the way ahead.

abstract：:A case of true hermaphroditism is reported in which a 46,XY karyotype was associated with a testis and an ovotestis. The dual presence of a Fallopian tube and a vas deferens on the side of the ovotestis is documented as a previously unreported finding. ...

journal_title：Journal of medical genetics

authors： Williams C,Hughes IA

更新日期：1988-03-01 00:00:00

abstract：BACKGROUND:Schneckenbecken dysplasia (SBD) is an autosomal recessive lethal skeletal dysplasia that is classified into the severe spondylodysplastic dysplasias (SSDD) group in the international nosology for skeletal dysplasias. The radiological hallmark of SBD is the snail-like configuration of the hypoplastic iliac bo...

journal_title：Journal of medical genetics

authors： Furuichi T,Kayserili H,Hiraoka S,Nishimura G,Ohashi H,Alanay Y,Lerena JC,Aslanger AD,Koseki H,Cohn DH,Superti-Furga A,Unger S,Ikegawa S

更新日期：2009-08-01 00:00:00

abstract：CONTEXT:In hereditary cancer syndrome families with an identified cancer associated mutation, mutation testing changes the carrier risk status of the tested person and may change the carrier risk status of relatives. OBJECTIVE:This study aimed to describe the change in the distribution of carrier risk status resulting...

journal_title：Journal of medical genetics

authors： Watson P,Narod SA,Fodde R,Wagner A,Lynch JF,Tinley ST,Snyder CL,Coronel SA,Riley B,Kinarsky Y,Lynch HT

更新日期：2003-08-01 00:00:00

abstract：BACKGROUND:Mutations in the KIAA2022 gene have been reported in male patients with X-linked intellectual disability, and related female carriers were unaffected. Here, we report 14 female patients who carry a heterozygous de novo KIAA2022 mutation and share a phenotype characterised by intellectual disability and epile...

journal_title：Journal of medical genetics

authors： de Lange IM,Helbig KL,Weckhuysen S,Møller RS,Velinov M,Dolzhanskaya N,Marsh E,Helbig I,Devinsky O,Tang S,Mefford HC,Myers CT,van Paesschen W,Striano P,van Gassen K,van Kempen M,de Kovel CG,Piard J,Minassian BA,Nezar

更新日期：2016-12-01 00:00:00

abstract：:The evidence that genetic and immunogenetic influences operate in the causation of pre-eclampsia/eclampsia (gestosis) is reviewed. The problems of definitive diagnosis are discussed along with the possibility of a multifactorial aetiology. The difficulties of differentiating trigger and effector mechanisms are also co...

journal_title：Journal of medical genetics

authors： Scott JS,Jenkins DM

更新日期：1976-06-01 00:00:00

abstract：:This report presents the detection of a heterozygous deletion at chromosome 12q14 in three unrelated patients with a similar phenotype consisting of mild mental retardation, failure to thrive in infancy, proportionate short stature and osteopoikilosis as the most characteristic features. In each case, this interstitia...

journal_title：Journal of medical genetics

authors： Menten B,Buysse K,Zahir F,Hellemans J,Hamilton SJ,Costa T,Fagerstrom C,Anadiotis G,Kingsbury D,McGillivray BC,Marra MA,Friedman JM,Speleman F,Mortier G

更新日期：2007-04-01 00:00:00

abstract：BACKGROUND:Spinal and bulbar muscular atrophy (SBMA), also known as Kennedy's disease, is an X-linked motor neuron disorder caused by an expanded CAG repeat in the gene coding for the androgen receptor (AR). The range and significance of reduced penetrance alleles in SBMA has not been fully determined to date. We prese...

journal_title：Journal of medical genetics

authors： Laskaratos A,Breza M,Karadima G,Koutsis G

更新日期：2020-06-22 00:00:00

abstract：:PPARgamma, the gamma isoform of a family of peroxisome proliferator activated receptors, plays a key role in adipocyte differentiation. Recently, its broad expression in multiple tissues and several epithelial cancers has been shown. Further, somatic loss of function mutations in PPARgamma have been found in primary c...

journal_title：Journal of medical genetics

authors： Zhou XP,Smith WM,Gimm O,Mueller E,Gao X,Sarraf P,Prior TW,Plass C,von Deimling A,Black PM,Yates AJ,Eng C

更新日期：2000-06-01 00:00:00

abstract：BACKGROUND:Ubiquitination has a central role in numerous biological processes, including cell development, stress responses and ageing. Perturbed ubiquitination has been implicated in human diseases ranging from cancer to neurodegenerative diseases. SIAH1 encodes a RING-type E3 ubiquitin ligase involved in protein ubiq...

journal_title：Journal of medical genetics

authors： Buratti J,Ji L,Keren B,Lee Y,Booke S,Erdin S,Kim SY,Palculict TB,Meiner V,Chae JH,Woods CG,Tam A,Héron D,Cong F,Harel T

更新日期：2020-05-19 00:00:00

abstract：:Cowden syndrome, or the multiple hamartoma syndrome, is a familial cancer syndrome with involvement of various organ systems. Inheritance is autosomal dominant with variable expression. Progressive macrocephaly, scrotal tongue, and mild to moderate mental retardation are important signs indicating the syndrome in youn...

journal_title：Journal of medical genetics

authors： Hanssen AM,Fryns JP

更新日期：1995-02-01 00:00:00

abstract：:A patient with a typical Down syndrome (DS) phenotype and a normal karyotype was studied by FISH. Using painting probes, we found that the patient had partial trisomy of chromosome 21 owing to an unbalanced translocation t(15;21) (q26; q22.1) of paternal origin. To correlate genotype with phenotype as accurately as po...

journal_title：Journal of medical genetics

authors： Nadal M,Moreno S,Pritchard M,Preciado MA,Estivill X,Ramos-Arroyo MA

更新日期：1997-01-01 00:00:00

abstract：BACKGROUND:The clinical phenotypes of females with fragile X full mutations vary drastically. Comparisons of discordant monozygotic twins provide opportunities to ascertain crucial factors that influence disease phenotype penetrance. OBJECTIVE:To identify crucial factors influencing the phenotypic expression of fragil...

journal_title：Journal of medical genetics

authors： Huang W,Luo S,Ou J,Zhu F,Xia Y,Xue J,Pan Q,Wu L,Duan R

更新日期：2014-03-01 00:00:00

abstract：:The inheritance of restriction fragment length polymorphisms for two fibrillar collagen genes (COL1A2 and COL3A1) has been studied in a large Marfan syndrome kindred. We are able to show discordant segregation between the Marfan syndrome and each of the two collagen gene markers. ...

journal_title：Journal of medical genetics

authors： Dalgleish R,Hawkins JR,Keston M

更新日期：1987-03-01 00:00:00

abstract：INTRODUCTION AND METHODS:Since the concept of the "two hit hypothesis" was introduced over 20 years ago, a wealth of genetic data has accumulated on the mutations found at tumour suppressor loci. Perhaps surprisingly, these data conceal large gaps in our knowledge which genetic and functional studies are beginning to u...

journal_title：Journal of medical genetics

authors： Tomlinson IP,Roylance R,Houlston RS

更新日期：2001-02-01 00:00:00

abstract：:Autism spectrum disorders represent a group of developmental disorders with strong genetic underpinnings. Several cytogenetic abnormalities or de novo mutations able to cause autism have recently been uncovered. In this study, the literature was reviewed to highlight genotype-phenotype correlations between causal gene...

journal_title：Journal of medical genetics

authors： Lintas C,Persico AM

更新日期：2009-01-01 00:00:00

abstract：:Bazex-Dupre-Christol syndrome (BDCS) is an X linked dominant disorder of the hair follicle characterised by follicular atrophoderma, multiple basal cell carcinomas, hypotrichosis, milia, and localised hypohidrosis. Follicular atrophoderma (FA) are follicular funnel shaped depressions, "ice pick marks", seen most commo...

journal_title：Journal of medical genetics

authors： Kidd A,Carson L,Gregory DW,de Silva D,Holmes J,Dean JC,Haites N

更新日期：1996-06-01 00:00:00

abstract：BACKGROUND:Disruption of granulocyte/macrophage colony-stimulating factor (GM-CSF) signalling causes pulmonary alveolar proteinosis (PAP). Rarely, genetic defects in neonatal or infant-onset PAP have been identified in CSF2RA. However, no report has clearly identified any function-associated genetic defect in CSF2RB. ...

journal_title：Journal of medical genetics

authors： Tanaka T,Motoi N,Tsuchihashi Y,Tazawa R,Kaneko C,Nei T,Yamamoto T,Hayashi T,Tagawa T,Nagayasu T,Kuribayashi F,Ariyoshi K,Nakata K,Morimoto K

更新日期：2011-03-01 00:00:00

abstract：:Recently five patients with an Albright hereditary osteodystrophy (AHO)-like phenotype were reported to have a subtelomeric deletion of the long arm of chromosome 2. These patients showed a striking resemblance to a number of patients from a large pedigree known to us for a long time. After molecular confirmation of a...

journal_title：Journal of medical genetics

authors： Bijlsma EK,Aalfs CM,Sluitjer S,Oude Luttikhuis ME,Trembath RC,Hoovers JM,Hennekam RC

更新日期：1999-08-01 00:00:00

abstract：INTRODUCTION:The Tousled-like kinases 1 and 2 (TLK1 and TLK2) are involved in many fundamental processes, including DNA replication, cell cycle checkpoint recovery and chromatin remodelling. Mutations in TLK2 were recently associated with 'Mental Retardation Autosomal Dominant 57' (MRD57, MIM# 618050), a neurodevelopme...

journal_title：Journal of medical genetics

authors： Pavinato L,Villamor-Payà M,Sanchiz-Calvo M,Andreoli C,Gay M,Vilaseca M,Arauz-Garofalo G,Ciolfi A,Bruselles A,Pippucci T,Prota V,Carli D,Giorgio E,Radio FC,Antona V,Giuffrè M,Ranguin K,Colson C,De Rubeis S,Dimartino

更新日期：2020-12-15 00:00:00

abstract：BACKGROUND:Cerebral cavernous malformations (CCMs) are vascular malformations mostly located within the central nervous system. Most deleterious variants are loss of function mutations in one of the three CCM genes. These genes code for proteins that form a ternary cytosolic complex with CCM2 as a hub. Very few CCM2 mi...

journal_title：Journal of medical genetics

authors： Bergametti F,Viot G,Verny C,Brechard MP,Denier C,Labauge P,Petit P,Nouet A,Viallet F,Chaussenot A,Hervé D,Tournier-Lasserve E,Riant F

更新日期：2020-06-01 00:00:00

abstract：:Four cases of unilateral giant breasts from two unrelated families are described. Three of the patients were managed surgically. It is speculated from a review of available published reports that this condition may be genetic with an autosomal dominant mode of inheritance. ...

journal_title：Journal of medical genetics

authors： Badejo OA

更新日期：1984-04-01 00:00:00

abstract：:A 6-year-old boy with speech delay and mild mental retardation (IQ 82) was found to have a complex double translocation involving four chromosomes and a total of five breakpoints, two being on the same arm. This resulted in the karyotype 46,XY,t(2;4;7)(7;8)(q14;q31;q11q22;q13). As far as the authors are aware this is ...

journal_title：Journal of medical genetics

authors： Couzin DA,Watt JL,Auchterlonie IA

更新日期：1983-10-01 00:00:00

abstract：PURPOSE:Previous reports cite high costs of clinical cancer genetic testing as main barriers to patient's willingness to test. We report findings of a pilot study that evaluates how different subsidy schemes impact genetic testing uptake and total cost of cancer management. METHODS:We included all patients who attende...

journal_title：Journal of medical genetics

authors： Li ST,Yuen J,Zhou K,Binte Ishak ND,Chen Y,Met-Domestici M,Chan SH,Tan YP,Allen JC Jr,Lim ST,Soo KC,Ngeow J

更新日期：2017-04-01 00:00:00

abstract：:We have analysed 40 marker loci on 13 chromosomes for linkage with Marfan syndrome. None of the loci was linked to the Marfan syndrome locus at theta = 0.00. This study provides a basis for an exclusion map and for further collaboration in mapping of the locus. ...

journal_title：Journal of medical genetics

authors： Schwartz RC,Blanton SH,Hyde CA,Sottile TR Jr,Hudgins L,Sarfarazi M,Tsipouras P

更新日期：1990-02-01 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:Congenital malformations involving the Müllerian ducts are observed in around 5% of infertile women. Complete aplasia of the uterus, cervix, and upper vagina, also termed Müllerian aplasia or Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome, occurs with an incidence of around 1 in 4500 female births, and occur...

journal_title：Journal of medical genetics

authors： Nik-Zainal S,Strick R,Storer M,Huang N,Rad R,Willatt L,Fitzgerald T,Martin V,Sandford R,Carter NP,Janecke AR,Renner SP,Oppelt PG,Oppelt P,Schulze C,Brucker S,Hurles M,Beckmann MW,Strissel PL,Shaw-Smith C

更新日期：2011-03-01 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：BACKGROUND:Recently, a patient with maternal uniparental disomy of chromosome 16 (UPD(16)mat) presenting with Silver-Russell syndrome (SRS) phenotype was reported. SRS is characterised by growth failure and dysmorphic features. OBJECTIVE:To clarify the prevalence of UPD(16)mat in aetiology-unknown patients with SRS ph...

journal_title：Journal of medical genetics

authors： Inoue T,Yagasaki H,Nishioka J,Nakamura A,Matsubara K,Narumi S,Nakabayashi K,Yamazawa K,Fuke T,Oka A,Ogata T,Fukami M,Kagami M

更新日期：2019-06-01 00:00:00

abstract：:The LMNA gene gives rise to at least three isoforms (lamin A, C, lamin AΔ10) as a result of normal alternative splicing, regulated by cis- and trans-acting regulatory factors, as well as the 5' and 3' untranslated regions of the gene. The two main isoforms, lamin A and C, are constitutive components of the fibrous nuc...

journal_title：Journal of medical genetics

authors： Luo YB,Mastaglia FL,Wilton SD

更新日期：2014-04-01 00:00:00

abstract：:An infant with features of trisomy 10p syndrome was found to have an abnormal chromosome 10: 46, XY, rec(10), dup p, inv(10) (p11q26) mat. The infant's mother was heterozygous for a pericentric inversion involving chromosome 10 (46, XX, inv (10) (p11q26). The infant's derivative chromosome was apparently produced by m...

journal_title：Journal of medical genetics

authors： Lansky-Shafer SC,Daniel WL,Ruiz L

更新日期：1981-02-01 00:00:00