The sex ratio in spina bifida.

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：:Retinal photoreceptor dystrophies (RD) are a highly heterogeneous group of genetic disorders of the retina, representing the most frequently inherited form of visual handicap, affecting approximately 1.5 million people world wide. To date, more than 40 genetic loci have been implicated in RD. One of them, the CORD2 lo...

journal_title：Journal of medical genetics

authors： Papaioannou M,Bessant D,Payne A,Bellingham J,Rougas C,Loutradis-Anagnostou A,Gregory-Evans C,Balassopoulou A,Bhattacharya S

更新日期：1998-05-01 00:00:00

abstract：:A male infant, partially trisomic for a small segment of chromosomes 6 and 22 resulting from a maternal translocation, is described. Comparison of the phenotypic features of the proband with those noted in partial 6p and partial 22 trisomies revealed some common features found in both chromosome anomalies but especial...

journal_title：Journal of medical genetics

authors： Scarbrough PR,Carroll AJ,Finley SC,Hamerick K

更新日期：1986-04-01 00:00:00

abstract：BACKGROUND:A variety of abnormalities have been demonstrated at chromosome 11p15 in individuals with overgrowth and growth retardation. The identification of these abnormalities is clinically important but often technically difficult. Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) is a ...

journal_title：Journal of medical genetics

authors： Scott RH,Douglas J,Baskcomb L,Nygren AO,Birch JM,Cole TR,Cormier-Daire V,Eastwood DM,Garcia-Minaur S,Lupunzina P,Tatton-Brown K,Bliek J,Maher ER,Rahman N

更新日期：2008-02-01 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：:This paper describes the coexistence of genetically determined reduced cholinesterase activity and congenital distichiasis in the same family. The pedigree suggests that these two autosomal dominant diseases are segregated independently and do not show evidence of linkage. ...

journal_title：Journal of medical genetics

authors： Shammas HF,Tabbara KF,der Kaloustian VM

更新日期：1976-12-01 00:00:00

abstract：:A child was brought to us with multiple anomalies. On examination we found an interstitial deletion in the long arms of chromosome 1. We studied genetic and chromosome markers, comparing our clinical and cytogenetic findings with other reported cases of chromosome 1 interstitial deletion. ...

journal_title：Journal of medical genetics

authors： de Pablo CE,García Sagredo JM,Ferro MT,Ferrando P,San Román C

更新日期：1980-12-01 00:00:00

abstract：:We report on a proband with both a Robertsonian translocation and Turner's syndrome. Study of the parental origin of the X chromosome performed by microsatellite analysis indicates paternal origin of the X chromosome (Xpat). The occurrence of chromosome aberrations as a consequence of interchromosomal interactions is ...

journal_title：Journal of medical genetics

authors： Krajinovic M,Ivanovic K,Mestroni L,Diklic V,Nikolis J

更新日期：1994-03-01 00:00:00

abstract：BACKGROUND:The most commonly reported phenotypes described in patients with PTEN mutations are Bannayan-Riley-Ruvalcaba syndrome (BRRS), with childhood onset, macrocephaly, lipomas and developmental delay, and Cowden Syndrome (CS), an adult-onset condition recognised by mucocutaneous signs, with a risk of cancers, in p...

journal_title：Journal of medical genetics

authors： Lachlan KL,Lucassen AM,Bunyan D,Temple IK

更新日期：2007-09-01 00:00:00

abstract：:To test the hypothesis that epidermal rather than dermal mosaicism determines Blaschko's lines in hypomelanosis of Ito (HI), we studied the distribution of chromosomal mosaicism in four patients. In two, mosaicism had not been detected in lymphocytes or dermal fibroblasts, but was clearly shown in epidermal keratinocy...

journal_title：Journal of medical genetics

authors： Moss C,Larkins S,Stacey M,Blight A,Farndon PA,Davison EV

更新日期：1993-09-01 00:00:00

abstract：BACKGROUND:Early infantile epileptic encephalopathies usually manifest as severely impaired cognitive and motor development and often result in a devastating permanent global developmental delay and intellectual disability. A large set of genes has been implicated in the aetiology of this heterogeneous group of disorde...

journal_title：Journal of medical genetics

authors： Edvardson S,Oz S,Abulhijaa FA,Taher FB,Shaag A,Zenvirt S,Dascal N,Elpeleg O

更新日期：2013-02-01 00:00:00

abstract：:We describe a patient with the unusual association of cleft palate, bilateral choanal atresia, curly hair, and congenital hypothyroidism. This association has been reported before in two brothers and may represent a new syndrome. ...

journal_title：Journal of medical genetics

authors： Buntincx IM,Van Overmeire B,Desager K,Van Hauwaert J

更新日期：1993-05-01 00:00:00

abstract：:Parkinson's disease (PD) is a complex and heterogeneous neurological condition characterised mainly by bradykinesia, resting tremor, rigidity and postural instability, symptoms that together comprise the parkinsonian syndrome. Non-motor symptoms preceding and following clinical onset are also helpful diagnostic marker...

journal_title：Journal of medical genetics

authors： Zhang PL,Chen Y,Zhang CH,Wang YX,Fernandez-Funez P

更新日期：2018-02-01 00:00:00

abstract：:By using the genetic linkage data between the facioscapulohumeral muscular dystrophy (FSHD) gene and 57 markers on various autosomes, we have constructed an exclusion map for this disorder. The maximum likelihood location of the FSHD gene and the percentage of the excluded areas on each chromosome are presented here. ...

journal_title：Journal of medical genetics

authors： Sarfarazi M,Upadhyaya M,Padberg G,Pericak-Vance M,Siddique T,Lucotte G,Lunt P

更新日期：1989-08-01 00:00:00

abstract：:Relatively few point mutations have been found in the dystrophin gene and of these only two have been associated with mosaicism. A single base insertion has been identified and quantified in a mother of two sons affected with Duchenne muscular dystrophy. It has been determined that she is a somatic mosaic with the mut...

journal_title：Journal of medical genetics

authors： Smith TA,Yau SC,Bobrow M,Abbs SJ

更新日期：1999-04-01 00:00:00

abstract：:Sorsby fundus dystrophy is an autosomal dominant disorder which both clinically and histopathologically bears striking similarities to age related macular degeneration, one of the leading causes of blindness in the developed world. Recent studies have suggested a genetic localisation of the disease to chromosome 22q i...

journal_title：Journal of medical genetics

authors： Gregory CY,Wijesuriya S,Evans K,Jay M,Bird AC,Bhattacharya SS

更新日期：1995-03-01 00:00:00

abstract：BACKGROUND:The melanocortin-4-receptor gene (MC4R) is part of the melanocortinergic pathway that controls energy homeostasis. In a recent meta-analysis, the MC4R V103I (rs2229616) polymorphism was shown to be associated with body weight regulation. Although no functional differences between the isoleucine comprising re...

journal_title：Journal of medical genetics

authors： Heid IM,Vollmert C,Hinney A,Döring A,Geller F,Löwel H,Wichmann HE,Illig T,Hebebrand J,Kronenberg F,KORA Group.

更新日期：2005-04-01 00:00:00

abstract：OBJECTIVE:Deficiency of α-galactosidase A (αGal-A) in Fabry disease leads to the accumulation mainly of globotriaosylceramide (GL3) in multiple renal cell types. Glomerular podocytes are relatively resistant to clearance of GL3 inclusions by enzyme replacement therapy (ERT). Migalastat, an orally bioavailable small mol...

journal_title：Journal of medical genetics

authors： Mauer M,Sokolovskiy A,Barth JA,Castelli JP,Williams HN,Benjamin ER,Najafian B

更新日期：2017-11-01 00:00:00

abstract：BACKGROUND:In phenylketonuria, genetic heterogeneity, frequent compound heterozygosity, and the lack of functional data for phenylalanine hydroxylase genotypes hamper reliable phenotype prediction and individualised treatment. METHODS:A literature search revealed 690 different phenylalanine hydroxylase genotypes in 30...

journal_title：Journal of medical genetics

authors： Danecka MK,Woidy M,Zschocke J,Feillet F,Muntau AC,Gersting SW

更新日期：2015-03-01 00:00:00

abstract：:A majority of cystic fibrosis (CF) genes (70 to 75%) share a single mutation, but the remaining 25 to 30% of defects are accounted for by more than 20 different mutations. One of the less frequent mutations, G551D, has been identified in the CF genes of two sibs and one unrelated adult patient. The adult patient also ...

journal_title：Journal of medical genetics

authors： Curtis A,Nelson R,Porteous M,Burn J,Bhattacharya SS

更新日期：1991-01-01 00:00:00

abstract：BACKGROUND:Data on the long-term motor outcomes of genome-wide association study (GWAS)-linked Parkinson disease (PD) carriers are useful for clinical management. OBJECTIVES:To characterise the association between GWAS-linked PARK16 gene variant and disease progression in PD over a 9-year time frame. METHODS:Over a 9...

journal_title：Journal of medical genetics

authors： Deng X,Xiao B,Allen JC,Ng E,Foo JN,Lo YL,Tan LCS,Tan EK

更新日期：2019-11-01 00:00:00

abstract：:We report two patients with suspected hereditary liability to pressure palsies. Neurophysiological studies showed a mixed axonal-demyelinating sensory-motor polyneuropathy with focal slowing of conduction velocities at the common sites of entrapment. Morphological studies on sural nerve biopsy from the proband showed ...

journal_title：Journal of medical genetics

authors： Sessa M,Nemni R,Quattrini A,Del Carro U,Wrabetz L,Canal N

更新日期：1997-11-01 00:00:00

abstract：:A 5-month-old infant was examined because of minor multiple malformations. He was found to have a de novo blanced reciprocal translocation 46,XY,t(6;8(q13;q22). On follow-up at the age of 17 months his mental development was found to be within normal limits. ...

journal_title：Journal of medical genetics

authors： Fried K,Rosenblatt M,Mundel G

更新日期：1977-04-01 00:00:00

abstract：:Split hand-split foot malformation (SHFM) is a genetically heterogeneous limb developmental defect characterised by the absence of digital rays and syndactyly of the remaining digits. Three disease loci have recently been mapped to chromosomes 7q21 (SHFM1), Xq26 (SHFM2), and 10q25 respectively (SHFM3). We report the m...

journal_title：Journal of medical genetics

authors： Raas-Rothschild A,Manouvrier S,Gonzales M,Farriaux JP,Lyonnet S,Munnich A

更新日期：1996-12-01 00:00:00

abstract：BACKGROUND:Rare variants in hundreds of genes have been implicated in developmental delay (DD), intellectual disability (ID) and neurobehavioural phenotypes. TNRC6B encodes a protein important for RNA silencing. Heterozygous truncating variants have been reported in three patients from large cohorts with autism, but no...

journal_title：Journal of medical genetics

authors： Granadillo JL,P A Stegmann A,Guo H,Xia K,Angle B,Bontempo K,Ranells JD,Newkirk P,Costin C,Viront J,Stumpel CT,Sinnema M,Panis B,Pfundt R,Krapels IPC,Klaassens M,Nicolai J,Li J,Jiang Y,Marco E,Canton A,Latronico

更新日期：2020-10-01 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：BACKGROUND:Members of two seemingly unrelated kindreds of Arab Moslem origin presented with pronounced early onset spastic paraparesis of upper and lower limbs, mild intellectual disability, kyphosis, pectus carinatum and hypertrichosis. METHODS:The authors performed neurological and developmental examinations on the ...

journal_title：Journal of medical genetics

authors： Zivony-Elboum Y,Westbroek W,Kfir N,Savitzki D,Shoval Y,Bloom A,Rod R,Khayat M,Gross B,Samri W,Cohen H,Sonkin V,Freidman T,Geiger D,Fattal-Valevski A,Anikster Y,Waters AM,Kleta R,Falik-Zaccai TC

更新日期：2012-07-01 00:00:00

abstract：:We report on two brothers and one maternal cousin with severe mental retardation, microcephaly, short stature, cryptorchidism, and spastic diplegia. The patients were born to normal and non-consanguineous parents. All other members of the family, almost exclusively females, were clinically normal, suggesting X linked ...

journal_title：Journal of medical genetics

authors： Martínez F,Tomás M,Millán JM,Fernández A,Palau F,Prieto F

更新日期：1998-04-01 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：BACKGROUND:Constitutional mismatch repair deficiency (CMMRD) syndrome is a childhood cancer predisposition syndrome involving biallelic germline mutations of MMR genes, poorly recognised by clinicians so far. METHODS:Retrospective review of all 31 patients with CMMRD diagnosed in French genetics laboratories in order ...

journal_title：Journal of medical genetics

authors： Lavoine N,Colas C,Muleris M,Bodo S,Duval A,Entz-Werle N,Coulet F,Cabaret O,Andreiuolo F,Charpy C,Sebille G,Wang Q,Lejeune S,Buisine MP,Leroux D,Couillault G,Leverger G,Fricker JP,Guimbaud R,Mathieu-Dramard M,Jedra

更新日期：2015-11-01 00:00:00