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Michael Patton

Research Profile

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Oman

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Gaurav V Harlalka; Simone Kühnle; Deborah J G Mackay; Konstantin Matentzoglu; Michael A Patton; Jose Luis Rosa; Martin Scheffner; Karin Wagner; Emma L Baple; Barry Chioza; Roselyn Coblentz; Harold Cross; Monica Cubillos-Rojas; Debra L Ford; Andrew H Crosby
Mutation of HERC2 causes developmental delay with Angelman-like features.
Andrew H Crosby; Heema Patel; Barry A Chioza; christos proukakis; Kay Gurtz; Michael A Patton; Reza Sharifi; Gaurav Harlalka; Michael A Simpson; Katherine Dick; Johanna A Reed; Ali Al-Memar; Zofia M A Chrzanowska-Lightowlers; Harold E Cross; Robert N Lightowlers
Defective mitochondrial mRNA maturation is associated with spastic ataxia.
Katherine J Dick; Matthias Eckhardt; Coro Paisan-Ruiz; Aisha Alkhayat Alshehhi; christos proukakis; Naomi A Sibtain; Helena Maier; Reza Sharifi; Michael A Patton; Wafa Bashir; Roshan Koul; Sandy Raeburn; Volkmar Gieselmann; Henry Houlden; Andrew H Crosby
Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35).

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All Publications

2013: Gaurav V Harlalka; Simone Kühnle; Deborah J G Mackay; Konstantin Matentzoglu; Michael A Patton; Jose Luis Rosa; Martin Scheffner; Karin Wagner; Emma L Baple; Barry Chioza; Roselyn Coblentz; Harold Cross; Monica Cubillos-Rojas; Debra L Ford; Andrew H Crosby
Mutation of HERC2 causes developmental delay with Angelman-like features.
Journal of medical genetics 2013;50(2):65-73.
2010: Andrew H Crosby; Heema Patel; Barry A Chioza; christos proukakis; Kay Gurtz; Michael A Patton; Reza Sharifi; Gaurav Harlalka; Michael A Simpson; Katherine Dick; Johanna A Reed; Ali Al-Memar; Zofia M A Chrzanowska-Lightowlers; Harold E Cross; Robert N Lightowlers
Defective mitochondrial mRNA maturation is associated with spastic ataxia.
American journal of human genetics 2010;87(5):655-60.
2010: Katherine J Dick; Matthias Eckhardt; Coro Paisan-Ruiz; Aisha Alkhayat Alshehhi; christos proukakis; Naomi A Sibtain; Helena Maier; Reza Sharifi; Michael A Patton; Wafa Bashir; Roshan Koul; Sandy Raeburn; Volkmar Gieselmann; Henry Houlden; Andrew H Crosby
Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35).
Human mutation 2010;31(4):E1251-60.
2009: Michael A Simpson; R W Cook; P Solanki; Michael A Patton; J A Dennis; Andrew H Crosby
A mutation in NFkappaB interacting protein 1 causes cardiomyopathy and woolly haircoat syndrome of Poll Hereford cattle.
Animal genetics 2009;40(1):42-6.
2009: Michael A Simpson; S Mansour; D Ahnood; Kamini Kalidas; Michael A Patton; William J McKenna; Elijah R Behr; Andrew H Crosby
Homozygous mutation of desmocollin-2 in arrhythmogenic right ventricular cardiomyopathy with mild palmoplantar keratoderma and woolly hair.
Cardiology 2009;113(1):28-34.
2008: K Zahka; Kamini Kalidas; Michael A Simpson; H Cross; B B Keller; C Galambos; K Gurtz; Michael A Patton; Andrew H Crosby
Homozygous mutation of MYBPC3 associated with severe infantile hypertrophic cardiomyopathy at high frequency among the Amish.
Heart (British Cardiac Society) 2008;94(10):1326-30.
2008: K J Dick; R Al-Mjeni; W Baskir; R Koul; Michael A Simpson; Michael A Patton; S Raeburn; Andrew H Crosby
A novel locus for an autosomal recessive hereditary spastic paraplegia (SPG35) maps to 16q21-q23.
Neurology 2008;71(4):248-52.
2008: Maria K Tsaousidou; Karim Ouahchi; Thomas T Warner; Yi Yang; Michael A Simpson; Nigel G Laing; Phillip A Wilkinson; Ricardo E Madrid; Heema Patel; Faycal Hentati; Michael A Patton; A Hentati; Philippa J Lamont; Teepu Siddique; Andrew H Crosby
Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration.
American journal of human genetics 2008;82(2):510-5.
2007: Michael A Simpson; R Hsu; L S Keir; J Hao; G Sivapalan; L M Ernst; Elaine H Zackai; L I Al-Gazali; G Hulskamp; H M Kingston; T E Prescott; Andra Ion; Michael A Patton; Victoria Murday; Anne George; Andrew H Crosby
Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development.
American journal of human genetics 2007;81(5):906-12.
2007: bassam rushdi ali; Steve Jeffery; Neha Patel; Lorna Tinworth; Nagwa Meguid; Michael A Patton; Ali R Afzal
Novel Robinow syndrome causing mutations in the proximal region of the frizzled-like domain of ROR2 are retained in the endoplasmic reticulum.
Human genetics 2007;122(3-4):389-95.
2007: Kristin Becker; Helen Hughes; Karol Howard; Maggie Armstrong; Devender Roberts; Edgar J Lazda; John P Short; Adam Shaw; Michael A Patton; Marco Tartaglia
Early fetal death associated with compound heterozygosity for Noonan syndrome-causative PTPN11 mutations.
American journal of medical genetics. Part A 2007;143A(11):1249-52.
2007: Adam C Shaw; Kamini Kalidas; Andrew H Crosby; Steve Jeffery; Michael A Patton
The natural history of Noonan syndrome: a long-term follow-up study.
Archives of disease in childhood 2007;92(2):128-32.
2005: Michael A Patton
Differing priorities for medical research funding.
Archives of disease in childhood 2005;90(11):1101.
2005: Johanna A Reed; Phillip A Wilkinson; Heema Patel; Michael A Simpson; Arnaud Chatonnet; Dimitri Robay; Michael A Patton; Andrew H Crosby; Thomas T Warner
A novel NIPA1 mutation associated with a pure form of autosomal dominant hereditary spastic paraplegia.
Neurogenetics 2005;6(2):79-84.
2005: Michael A Patton
Genetic studies in the Amish community.
Annals of human biology 2005;32(2):163-7.
2005: Kirsten Heathcote; Claire Braybrook; Lulu Abushaban; Michelle Guy; Maher E Khetyar; Michael A Patton; Nicholas D Carter; Peter J Scambler; Petros Syrris
Common arterial trunk associated with a homeodomain mutation of NKX2.6.
Human molecular genetics 2005;14(5):585-93.
2005: Kamini Kalidas; Adam C Shaw; Andrew H Crosby; Ruth Newbury-Ecob; Lynn Greenhalgh; Isabel K Temple; Caroline Law; Amisha Patel; Michael A Patton; Steve Jeffery
Genetic heterogeneity in LEOPARD syndrome: two families with no mutations in PTPN11.
Journal of human genetics 2005;50(1):21-5.
2004: Michael A Simpson; Harold Cross; christos proukakis; David A Priestman; David C A Neville; Gabriele Reinkensmeier; Heng Wang; Max Wiznitzer; Kay Gurtz; Argyro Verganelaki; Anna Pryde; Michael A Patton; Raymond A Dwek; Terry D Butters; Frances M Platt; Andrew H Crosby
Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase.
Nature genetics 2004;36(11):1225-9.
2004: christos proukakis; Harold Cross; Heema Patel; Michael A Patton; Alan Valentine; Andrew H Crosby
Troyer syndrome revisited. A clinical and radiological study of a complicated hereditary spastic paraplegia.
Journal of neurology 2004;251(9):1105-10.
2004: Thomas T Warner; Heema Patel; christos proukakis; Johanna A Reed; Laura McKie; Adrian Wills; Michael A Patton; Andrew H Crosby
A clinical, genetic and candidate gene study of Silver syndrome, a complicated form of hereditary spastic paraplegia.
Journal of neurology 2004;251(9):1068-74.
2004: Marco Tartaglia; Viviana Cordeddu; Hong Chang; Adam Shaw; Kamini Kalidas; Andrew H Crosby; Michael A Patton; Mariella Sorcini; Ineke van der Burgt; Steve Jeffery; Bruce D Gelb
Paternal germline origin and sex-ratio distortion in transmission of PTPN11 mutations in Noonan syndrome.
American journal of human genetics 2004;75(3):492-7.
2004: Dragana J Josifova; Michael A Patton; Karen Marks
Oculoauriculovertebral spectrum phenotype caused by an unbalanced t(5;8)(p15.31;p23.1) rearrangement.
Clinical dysmorphology 2004;13(3):151-3.
2004: Ana Carolina B Marçano; Kit Doudney; Claire Braybrook; R Squires; Michael A Patton; M M Lees; Antonio Richieri-Costa; Andrew C Lidral; Jeffrey C Murray; Gudrun E Moore; Philip Stanier
TBX22 mutations are a frequent cause of cleft palate.
Journal of medical genetics 2004;41(1):68-74.
2003: Michael A Simpson; Harold Cross; christos proukakis; Anna Pryde; Ruth Hershberger; Arnaud Chatonnet; Michael A Patton; Andrew H Crosby
Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia.
American journal of human genetics 2003;73(5):1147-56.
2003: Diana Baralle; Chris Mattocks; Kamini Kalidas; Frances Elmslie; Joanne Whittaker; Melissa Lees; Nicola K Ragge; Michael A Patton; Robin M Winter; Charles ffrench-Constant
Different mutations in the NF1 gene are associated with Neurofibromatosis-Noonan syndrome (NFNS).
American journal of medical genetics. Part A 2003;119A(1):1-8.
2003: Francesca D Ciccarelli; christos proukakis; Heema Patel; Harold Cross; Shakil Azam; Michael A Patton; Peer Bork; Andrew H Crosby
The identification of a conserved domain in both spartin and spastin, mutated in hereditary spastic paraplegia.
Genomics 2003;81(4):437-41.
2003: christos proukakis; Michaela Auer-Grumbach; Klaus Wagner; Phillip A Wilkinson; E Reid; Michael A Patton; Thomas T Warner; Andrew H Crosby
Screening of patients with hereditary spastic paraplegia reveals seven novel mutations in the SPG4 (Spastin) gene.
Human mutation 2003;21(2):170.
2002: Claire Braybrook; Steven Lisgo; Kit Doudney; Deborah Henderson; Ana Carolina B Marçano; Tom Strachan; Michael A Patton; Laurent Villard; Gudrun E Moore; Philip Stanier; Susan Lindsay
Craniofacial expression of human and murine TBX22 correlates with the cleft palate and ankyloglossia phenotype observed in CPX patients.
Human molecular genetics 2002;11(22):2793-804.
2002: Andra Ion; Marco Tartaglia; Xiaoling Song; Kamini Kalidas; Ineke van der Burgt; Adam C Shaw; Jeffrey E Ming; Giuseppe Zampino; Elaine H Zackai; John C S Dean; Mirja Somer; Giancarlo Parenti; Andrew H Crosby; Michael A Patton; Bruce D Gelb; Steve Jeffery
Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome.
Human genetics 2002;111(4-5):421-7.
2002: Heema Patel; Harold Cross; christos proukakis; Ruth Hershberger; Peer Bork; Francesca D Ciccarelli; Michael A Patton; Victor A McKusick; Andrew H Crosby
SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia.
Nature genetics 2002;31(4):347-8.
2002: Marco Tartaglia; Kamini Kalidas; Adam Shaw; Xiaoling Song; Dan L Musat; Ineke van der Burgt; Han G Brunner; Débora R Bertola; Andrew H Crosby; Andra Ion; Raju Kucherlapati; Steve Jeffery; Michael A Patton; Bruce D Gelb
PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.
American journal of human genetics 2002;70(6):1555-63.
2002: Michael A Patton; Ali R Afzal
Robinow syndrome.
Journal of medical genetics 2002;39(5):305-10.
2001: Marco Tartaglia; Ernest L Mehler; R Goldberg; Giuseppe Zampino; Han G Brunner; Hannie Kremer; Ineke van der Burgt; Andrew H Crosby; Andra Ion; Steve Jeffery; Kamini Kalidas; Michael A Patton; Raju Kucherlapati; Bruce D Gelb
Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.
Nature genetics 2001;29(4):465-8.
2001: Claire Braybrook; Kit Doudney; Ana Carolina B Marçano; A Arnason; A Bjornsson; Michael A Patton; Paul J Goodfellow; Gudrun E Moore; Philip Stanier
The T-box transcription factor gene TBX22 is mutated in X-linked cleft palate and ankyloglossia.
Nature genetics 2001;29(2):179-83.
2001: Heema Patel; Paul E Hart; T Warner; I Allen; H E Phillimore; J R Silver; Nicholas W Wood; Steve Jeffery; Michael A Patton; Andrew H Crosby
Silver syndrome is not linked to any of the previously established autosomal dominant hereditary spastic paraplegia loci.
American journal of medical genetics 2001;102(1):68-72.
2001: Heema Patel; Paul E Hart; Thomas T Warner; R S Houlston; Michael A Patton; Steve Jeffery; Andrew H Crosby
The Silver syndrome variant of hereditary spastic paraplegia maps to chromosome 11q12-q14, with evidence for genetic heterogeneity within this subtype.
American journal of human genetics 2001;69(1):209-15.
2001: H Patel; M Nardelli; T Fenn; richard Houlston; AS Coonar; Michael A Patton; Andrew H Crosby
Homozygosity at chromosome 8qter in individuals affected by mal de Meleda (Meleda disease) originating from the island of Meleda.
The British journal of dermatology 2001;144(4):731-4.
2001: R Bell; Victoria Murday; Michael A Patton; Steve Jeffery
Two families with blepharophimosis/ptosis/epicanthus inversus syndrome have mutations in the putative forkhead transcription factor FOXL2.
Genetic testing 2001;5(4):335-8.
2000: Petros Syrris; NM Malik; Victoria Murday; Michael A Patton; Nicholas D Carter; H E Hughes; K Metcalfe
Three novel mutations of the proto-oncogene KIT cause human piebaldism.
American journal of medical genetics 2000;95(1):79-81.
2000: Andra Ion; Andrew H Crosby; Hannie Kremer; N Kenmochi; M van Reen; CD Fenske; Ineke van der Burgt; Han G Brunner; K Montgomery; Raju Kucherlapati; Michael A Patton; C Page; Edwin C M Mariman; Steve Jeffery
Detailed mapping, mutation analysis, and intragenic polymorphism identification in candidate Noonan syndrome genes MYL2, DCN, EPS8, and RPL6.
Journal of medical genetics 2000;37(11):884-6.
2000: Anna Rajab; A Riaz; G Paul; S Al-Khusaibi; R Chalmers; Michael A Patton
Further delineation of the DOOR syndrome.
Clinical dysmorphology 2000;9(4):247-51.
2000: YP Daryani; G H Barker; L K Penna; Michael A Patton
Transcervical sampling as a means of detection of fetal cells during the first trimester of pregnancy.
American journal of obstetrics and gynecology 2000;183(3):752-4.
2000: Ali R Afzal; A Rajab; CD Fenske; Michael Oldridge; Navaratnam Elanko; E Ternes-Pereira; B Tüysüz; Victoria Murday; Michael A Patton; Andrew O M Wilkie; Steve Jeffery
Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2.
Nature genetics 2000;25(4):419-22.
2000: A Rajab; Michael A Patton
A study of consanguinity in the Sultanate of Oman.
Annals of human biology 2000;27(3):321-6.
2000: Ali R Afzal; A Rajab; CD Fenske; Andrew H Crosby; N Lahiri; E Ternes-Pereira; Victoria Murday; richard Houlston; Michael A Patton; Steve Jeffery
Linkage of recessive Robinow syndrome to a 4 cM interval on chromosome 9q22.
Human genetics 2000;106(3):351-4.
2000: Ali R Afzal; R N Florêncio; R Taylor; Michael A Patton; Anand K Saggar-Malik; Steve Jeffery
Novel mutations in the duplicated region of the polycystic kidney disease 1 (PKD1) gene provides supporting evidence for gene conversion.
Genetic testing 2000;4(4):365-70.
2000: Kirsten Heathcote; Petros Syrris; Nicholas D Carter; Michael A Patton
A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis (MIM 148350).
Journal of medical genetics 2000;37(1):50-1.
1999: AF Brady; M M Elsawi; C R Jamieson; K Marks; Steve Jeffery; Michael A Patton; L Murtaza; M O Savage
Clinical and molecular findings in a patient with a deletion on the long arm of chromosome 12.
Journal of medical genetics 1999;36(12):939-41.
1999: Petros Syrris; Nicholas D Carter; Michael A Patton
Novel nonsense mutation of the endothelin-B receptor gene in a family with Waardenburg-Hirschsprung disease.
American journal of medical genetics 1999;87(1):69-71.
1999: A Murray; C Donger; CD Fenske; I Spillman; Pascale Richard; Yanbin Dong; Nathalie Neyroud; Philippe Chevalier; Isabelle Denjoy; N Carter; Petros Syrris; Ali R Afzal; Michael A Patton; Pascale Guicheney; Steve Jeffery
Splicing mutations in KCNQ1: a mutation hot spot at codon 344 that produces in frame transcripts.
Circulation 1999;100(10):1077-84.
1999: A Rajab; Michael A Patton
Development and use of a national haemoglobinopathy register in Oman.
Community genetics 1999;2(1):47-8.
1999: A Rajab; Michael A Patton
Analysis of the population structure in Oman.
Community genetics 1999;2(1):23-5.
1998: A Rajab; A Vaishnav; Neill V Freeman; Michael A Patton
Neural tube defects and congenital hydrocephalus in the Sultanate of Oman.
Journal of tropical pediatrics 1998;44(5):300-3.
1998: AF Brady; P P Pandya; B Yuksel; A Greenough; Michael A Patton; K H Nicolaides
Outcome of chromosomally normal livebirths with increased fetal nuchal translucency at 10-14 weeks' gestation.
Journal of medical genetics 1998;35(3):222-4.
1997: AF Brady; Michael A Patton
Osteogenesis imperfecta with arthrogryposis multiplex congenita (Bruck syndrome)--evidence for possible autosomal recessive inheritance.
Clinical dysmorphology 1997;6(4):329-36.
1997: AF Brady; C R Jamieson; Ineke van der Burgt; Andrew H Crosby; M van Reen; Hannie Kremer; Edwin C M Mariman; Michael A Patton; Steve Jeffery
Further delineation of the critical region for noonan syndrome on the long arm of chromosome 12.
European journal of human genetics : EJHG 1997;5(5):336-7.
1997: A Rajab; Michael A Patton
Major factors determining the frequencies of hemoglobinopathies in Oman.
American journal of medical genetics 1997;71(2):240-2.
1997: YP Daryani; G Barker; Michael A Patton
Limb defects as a consequence of CVS or uterine lavage? A need for further documentation of the technique and complications.
Prenatal diagnosis 1997;17(8):789-90.
1997: A Rajab; Neill V Freeman; Michael A Patton
Hirschsprung's disease in Oman.
Journal of pediatric surgery 1997;32(5):724-7.
1997: YP Daryani; L K Penna; Michael A Patton
Detection of cells of fetal origin from transcervical irrigations.
Prenatal diagnosis 1997;17(3):243-8.
1996: AF Brady; Michael A Patton
Web-neck anomaly and its association with congenital heart disease.
American journal of medical genetics 1996;64(4):605-6.
1996: AM Cotterill; W J McKenna; AF Brady; M Sharland; M Elsawi; M Yamada; Cecilia Camacho-Hübner; C J Kelnar; David D Dunger; Michael A Patton; Martin O Savage
The short-term effects of growth hormone therapy on height velocity and cardiac ventricular wall thickness in children with Noonan's syndrome.
The Journal of clinical endocrinology and metabolism 1996;81(6):2291-7.
1995: H S Harrar; Steve Jeffery; Michael A Patton
Linkage analysis in blepharophimosis-ptosis syndrome confirms localisation to 3q21-24.
Journal of medical genetics 1995;32(10):774-7.
1994: C R Jamieson; Ineke van der Burgt; AF Brady; M van Reen; M M Elsawi; Frans A Hol; Steve Jeffery; Michael A Patton; Edwin C M Mariman
Mapping a gene for Noonan syndrome to the long arm of chromosome 12.
Nature genetics 1994;8(4):357-60.
1994: M M Elsawi; J P Pryor; G Klufio; C Barnes; Michael A Patton
Genital tract function in men with Noonan syndrome.
Journal of medical genetics 1994;31(6):468-70.
1993: Michael A Patton; Steve Jeffery; N Lee; C Hogg
Congenital nystagmus cosegregating with a balanced 7;15 translocation.
Journal of medical genetics 1993;30(6):526-8.
1993: M Sharland; M Morgan; G Smith; M Burch; Michael A Patton
Genetic counselling in Noonan syndrome.
American journal of medical genetics 1993;45(4):437-40.
1993: M Sharland; M Morgan; Michael A Patton
Photoanthropometric study of facial growth in Noonan syndrome.
American journal of medical genetics 1993;45(4):430-6.
1993: C D George; Michael A Patton; M el Sawi; M Sharland; E J Adam
Abdominal ultrasound in Noonan syndrome: a study of 44 patients.
Pediatric radiology 1993;23(4):316-8.
1992: M Burch; J M Mann; M Sharland; E A Shinebourne; Michael A Patton; W J McKenna
Myocardial disarray in Noonan syndrome.
British heart journal 1992;68(6):586-8.
1992: M Sharland; M Jones; M Bain; R Chalmers; J Hammond; Michael A Patton
Balanced translocation (14;20) in a mentally handicapped child with cystinuria.
Journal of medical genetics 1992;29(7):507-8.
1992: M Sharland; R Taylor; Michael A Patton; Steve Jeffery
Absence of linkage of Noonan syndrome to the neurofibromatosis type 1 locus.
Journal of medical genetics 1992;29(3):188-90.
1992: M Sharland; Michael A Patton; S Talbot; A Chitolie; D H Bevan
Coagulation-factor deficiencies and abnormal bleeding in Noonan's syndrome.
Lancet 1992;339(8784):19-21.
1992: M Sharland; N R Bleach; P D Goberdhan; Michael A Patton
Autosomal dominant palmoplantar hyperkeratosis and sensorineural deafness in three generations.
Journal of medical genetics 1992;29(1):50-2.
1991: M Sharland; Michael A Patton; L Hill
Ectrodactyly of hands and feet in a child with a complex translocation including 7q21.2.
American journal of medical genetics 1991;39(4):413-4.