Association of less common cystic fibrosis mutations with a mild phenotype.

abstract：BACKGROUND:Birt-Hogg-Dubé syndrome (BHDS) is an inherited autosomal genodermatosis characterised by fibrofolliculomas of the skin, renal tumours and multiple lung cysts. Genetic studies have disclosed that the clinical picture as well as responsible germline FLCN mutations are diverse. OBJECTIVES:BHDS may be caused by...

journal_title：Journal of medical genetics

authors： Kunogi M,Kurihara M,Ikegami TS,Kobayashi T,Shindo N,Kumasaka T,Gunji Y,Kikkawa M,Iwakami S,Hino O,Takahashi K,Seyama K

更新日期：2010-04-01 00:00:00

abstract：BACKGROUND:Distal hereditary motor neuronopathies (dHMN) are a group of genetic disorders characterised by motor neuron degeneration leading to muscle weakness that are caused by mutations in various genes. HMNJ is a distinct form of the disease that has been identified in patients from the Jerash region of Jordan. Our...

journal_title：Journal of medical genetics

authors： Ververis A,Dajani R,Koutsou P,Aloqaily A,Nelson-Williams C,Loring E,Arafat A,Mubaidin AF,Horany K,Bader MB,Al-Baho Y,Ali B,Muhtaseb A,DeSpenza T Jr,Al-Qudah AA,Middleton LT,Zamba-Papanicolaou E,Lifton R,Christodoulou

更新日期：2020-03-01 00:00:00

abstract：:A cytogenetic survey of the complete population of mentally subnormal in the North-East of Scotland has been undertaken. A register for the mentally subnormal within the region already existed, and all persons recorded, whether they resided at home or in subnormality hospitals or other institutional care, were include...

journal_title：Journal of medical genetics

authors： Speed RM,Johnston AW,Evans HJ

更新日期：1976-08-01 00:00:00

abstract：BACKGROUND:The genetic causes of human idiopathic non-obstructive azoospermia (NOA) with meiotic arrest remain unclear. METHODS:Two Chinese families with infertility participated in the study. In family 1, two brothers were affected by idiopathic NOA. In family 2, the proband was diagnosed with idiopathic NOA, and his...

journal_title：Journal of medical genetics

authors： Yao C,Yang C,Zhao L,Li P,Tian R,Chen H,Guo Y,Huang Y,Zhi E,Zhai J,Sun H,Zhang J,Hong Y,Zhang L,Ji Z,Zhang F,Zhou Z,Li Z

更新日期：2020-09-08 00:00:00

abstract：BACKGROUND:Cohen syndrome is a rare autosomal recessive inherited disorder that results from mutations of the VPS13B gene. Clinical features consist of a combination of mental retardation, facial dysmorphism, postnatal microcephaly, truncal obesity, slender extremities, joint hyperextensibility, myopia, progressive cho...

journal_title：Journal of medical genetics

authors： El Chehadeh S,Aral B,Gigot N,Thauvin-Robinet C,Donzel A,Delrue MA,Lacombe D,David A,Burglen L,Philip N,Moncla A,Cormier-Daire V,Rio M,Edery P,Verloes A,Bonneau D,Afenjar A,Jacquette A,Heron D,Sarda P,Pinson L,Do

更新日期：2010-08-01 00:00:00

abstract：:Primary hyperoxaluria type 1 (PH1) is a severe autosomal recessive inborn error of glyoxylate metabolism caused by deficiency of the hepatic peroxisomal enzyme alanine:glyoxylate aminotransferase. This enzyme is encoded by the AGXT gene on chromosome 2q37.3. DNA samples from 79 PH1 patients were studied using single s...

journal_title：Journal of medical genetics

authors： von Schnakenburg C,Rumsby G

更新日期：1997-06-01 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:Usher syndrome, a devastating recessive disorder which combines hearing loss with retinitis pigmentosa, is clinically and genetically heterogeneous. Usher syndrome type 1 (USH1) is the most severe form, characterised by profound congenital hearing loss and vestibular dysfunction. OBJECTIVE:To describe an ef...

journal_title：Journal of medical genetics

authors： Roux AF,Faugère V,Le Guédard S,Pallares-Ruiz N,Vielle A,Chambert S,Marlin S,Hamel C,Gilbert B,Malcolm S,Claustres M,French Usher Syndrome Collaboration.

更新日期：2006-09-01 00:00:00

abstract：:Cytogenetic analysis, fluorescent in situ hybridisation (FISH), and molecular amplification have been used to characterise the transfer of Yp fragments to Xp22.3 in six XX males. PCR amplification of the genes SRY, RPS4Y, ZFY, AMELY, KALY, and DAZ and of several other markers along the Y chromosome short and long arms...

journal_title：Journal of medical genetics

authors： Margarit E,Soler A,Carrió A,Oliva R,Costa D,Vendrell T,Rosell J,Ballesta F

更新日期：1998-09-01 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：:Albright hereditary osteodystrophy (AHO) is an autosomal dominant disorder characterised by the presence of brachymetaphalangism, short stature, obesity, and mental retardation. Variable biochemical changes many represent either pseudohypoparathyroidism (PHP) owing to resistance to parathormone (PTH) or pseudopseudohy...

journal_title：Journal of medical genetics

authors： Power MM,James RS,Barber JC,Fisher AM,Wood PJ,Leatherdale BA,Flanagan DE,Hatchwell E

更新日期：1997-04-01 00:00:00

abstract：BACKGROUND:Fanconi anaemia is a heterogeneous genetic disease, where 12 complementation groups have been already described. Identifying the complementation group in patients with Fanconi anaemia constitutes a direct procedure to confirm the diagnosis of the disease and is required for the recruitment of these patients ...

journal_title：Journal of medical genetics

authors： Antonio Casado J,Callén E,Jacome A,Río P,Castella M,Lobitz S,Ferro T,Muñoz A,Sevilla J,Cantalejo A,Cela E,Cervera J,Sánchez-Calero J,Badell I,Estella J,Dasí A,Olivé T,José Ortega J,Rodriguez-Villa A,Tapia M,Moliné

更新日期：2007-04-01 00:00:00

abstract：:X inactivation studies have been carried out on 22 pairs of female monozygotic twins, one set of female monozygotic triplets, and their mothers and singleton sisters, using the probe M27 beta. Forty-eight per cent of the twins, 55% of their mothers, and 42% of their singleton sisters showed skewed X inactivation. Two ...

journal_title：Journal of medical genetics

authors： Watkiss E,Webb T,Rysiecki G,Girdler N,Hewett E,Bundey S

更新日期：1994-10-01 00:00:00

abstract：:Respiratory chain complex I deficiency represents a genetically heterogeneous group of diseases resulting from mutations in mitochondrial or nuclear genes. Mutations have been reported in 13 of the 14 subunits encoding the core of complex I (seven mitochondrial and six nuclear genes) and these result in Leigh or Leigh...

journal_title：Journal of medical genetics

authors： Bénit P,Slama A,Cartault F,Giurgea I,Chretien D,Lebon S,Marsac C,Munnich A,Rötig A,Rustin P

更新日期：2004-01-01 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：BACKGROUND:Primary pulmonary hypertension (PPH), resulting from occlusion of small pulmonary arteries, is a devastating condition. Mutations of the bone morphogenetic protein receptor type II gene (BMPR2), a component of the transforming growth factor beta (TGF-beta) family which plays a key role in cell growth, have r...

journal_title：Journal of medical genetics

authors： Thomson JR,Machado RD,Pauciulo MW,Morgan NV,Humbert M,Elliott GC,Ward K,Yacoub M,Mikhail G,Rogers P,Newman J,Wheeler L,Higenbottam T,Gibbs JS,Egan J,Crozier A,Peacock A,Allcock R,Corris P,Loyd JE,Trembath RC,Nic

更新日期：2000-10-01 00:00:00

abstract：:Angelman syndrome (AS) and Prader-Willi syndrome (PWS) have become the classical examples of genomic imprinting in man, as completely different phenotypes are generated by the absence of maternal (AS) or paternal (PWS) contributions to the q11-13 region of chromosome 15 as a result of deletion or uniparental disomy. A...

journal_title：Journal of medical genetics

authors： Meijers-Heijboer EJ,Sandkuijl LA,Brunner HG,Smeets HJ,Hoogeboom AJ,Deelen WH,van Hemel JO,Nelen MR,Smeets DF,Niermeijer MF

更新日期：1992-12-01 00:00:00

abstract：:Costello syndrome is characterised by postnatal growth deficiency, coarse facies, redundant skin on the neck, palms, soles, and fingers, dark skin, acanthosis nigricans, and papillomata. The natural history evolves in two phases, a severe failure to thrive during the first months contrasting with a normal weight gain ...

journal_title：Journal of medical genetics

authors： Philip N,Sigaudy S

更新日期：1998-03-01 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：:Two cases of growth failure, microcephaly, facial dysmorphism, muscular hypertonia, and severe psychomotor retardation are described. At birth, both cases had cytogenetic mosaicism in lymphocytes and skin fibroblasts, in case 1 ring chromosome 21 and monosomy 21 and in case 2, deletion of chromosome 21 and monosomy 21...

journal_title：Journal of medical genetics

authors： Bartsch O,Petersen MB,Stuhlmann I,Mau G,Frantzen M,Schwinger E,Antonarakis SE,Mikkelsen M

更新日期：1994-07-01 00:00:00

abstract：BACKGROUND:Amelogenesis imperfecta (AI) is a group of genetic diseases characterised by tooth enamel defects. AI was recently described in patients with familial hypercalciuria and hypomagnesaemia with nephrocalcinosis (FHHNC) caused by CLDN16 mutations. In the kidney, claudin-16 interacts with claudin-19 to control th...

journal_title：Journal of medical genetics

authors： Yamaguti PM,Neves FA,Hotton D,Bardet C,de La Dure-Molla M,Castro LC,Scher MD,Barbosa ME,Ditsch C,Fricain JC,de La Faille R,Figueres ML,Vargas-Poussou R,Houillier P,Chaussain C,Babajko S,Berdal A,Acevedo AC

更新日期：2017-01-01 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：:A study of the ethnic distribution of families attending genetic clinics in Birmingham has shown a deficit of Afro-Caribbean and Pakistani families. The former may be because of a deficiency of autosomal recessive diseases other than sickle cell disease, but the numbers are too small to be certain of this. The deficit...

journal_title：Journal of medical genetics

authors： Roberts A,Cullen R,Bundey S

更新日期：1996-01-01 00:00:00

abstract：:The m.8993T-->C MTATP6 mutation of mitochondrial DNA (mtDNA) usually causes mitochondrial disease in childhood, but was recently described in a family with adult onset ataxia and polyneuropathy. Cytochrome c oxidase muscle histochemistry, which is the standard clinical investigation for mitochondrial disease in adults...

journal_title：Journal of medical genetics

authors： Craig K,Elliott HR,Keers SM,Lambert C,Pyle A,Graves TD,Woodward C,Sweeney MG,Davis MB,Hanna MG,Chinnery PF

更新日期：2007-12-01 00:00:00

abstract：:The appropriate ABH-gene specified glycosyltransferases in the plasma of the Birmingham chimaera were estimated. These observatiions and the demonstration of A1Leb blood group specific glycosphingolipid in the plasma indicate that the minority population of red blood cells probably represents the true blood groups of ...

journal_title：Journal of medical genetics

authors： Bird GW,Battey DA,Greenwell P,Mortimer CW,Watkins WM,Wingham J

更新日期：1976-02-01 00:00:00

abstract：:A child is presented with a 49,XXXXX chromosomal constitution bringing to 12 the total number of children described with this karyotype. Comparison of this child's features with previously reported cases indicates a clinically recognisable specific pattern of malformations referred to as the penta-X syndrome. X chromo...

journal_title：Journal of medical genetics

authors： Monheit A,Francke U,Saunders B,Jones KL

更新日期：1980-10-01 00:00:00

abstract：BACKGROUND:Nerve growth factor β (NGFβ) and tyrosine kinase receptor type A (TRKA) are a well studied neurotrophin/receptor duo involved in neuronal survival and differentiation. The only previously reported hereditary sensory neuropathy caused by an NGF mutation, c.661C>T (HSAN5), and the pathology caused by biallelic...

journal_title：Journal of medical genetics

authors： Carvalho OP,Thornton GK,Hertecant J,Houlden H,Nicholas AK,Cox JJ,Rielly M,Al-Gazali L,Woods CG

更新日期：2011-02-01 00:00:00

abstract：:Cardio-facio-cutaneous (CFC) syndrome, Noonan syndrome (NS), and Costello syndrome (CS) are clinically related developmental disorders that have been recently linked to mutations in the RAS/MEK/ERK signalling pathway. This study was a mutation analysis of the KRAS, BRAF, MEK1 and MEK2 genes in a total of 130 patients ...

journal_title：Journal of medical genetics

authors： Nava C,Hanna N,Michot C,Pereira S,Pouvreau N,Niihori T,Aoki Y,Matsubara Y,Arveiler B,Lacombe D,Pasmant E,Parfait B,Baumann C,Héron D,Sigaudy S,Toutain A,Rio M,Goldenberg A,Leheup B,Verloes A,Cavé H

更新日期：2007-12-01 00:00:00

abstract：:PurposeThe purpose of this document is to provide guidance for the use of next-generation sequencing (NGS, also known as massively parallel sequencing or MPS) in Canadian clinical genetic laboratories for detection of genetic variants in genomic DNA and mitochondrial DNA for inherited disorders, as well as somatic var...

journal_title：Journal of medical genetics

authors： Hume S,Nelson TN,Speevak M,McCready E,Agatep R,Feilotter H,Parboosingh J,Stavropoulos DJ,Taylor S,Stockley TL,Canadian College of Medical Geneticists (CCMG).

更新日期：2019-12-01 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