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Papers authored by Macdermot K

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Assessing the impact of FOXP1 mutations on developmental verbal dyspraxia.

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Vernes SC, MacDermot KD, Monaco AP, and Fisher SE

European journal of human genetics : EJHG 17(10):1354-8, 2009 Oct - Who cited this? | PubMed ID: 19352412 | Fulltext

Nicolaides-Baraitser syndrome: Delineation of the phenotype.

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Sousa SB, Abdul-Rahman OA, Bottani A, Cormier-Daire V, Fryer A, Gillessen-Kaesbach G, Horn D, Josifova D, Kuechler A, Lees M, MacDermot K, Magee A, Morice-Picard F, Rosser E, Sarkar A, Shannon N,

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American journal of medical genetics. Part A 149A(8):1628-40, 2009 Aug - Who cited this? | PubMed ID: 19606471 | Fulltext

Pseudoaneurysm of the peroneal artery: presentation of Ehlers-Danlos syndrome type IV.

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Mandeville K, Bicknell C, Tran T, MacDermot K, and Renton S

European journal of vascular and endovascular surgery : the official journal of the European Society for Vascular Surgery 36(3):353-5, 2008 Sep - Who cited this? | PubMed ID: 18485758 | Fulltext

Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients.

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Archer HL, Whatley SD, Evans JC, Ravine D, Huppke P, Kerr A, Bunyan D, Kerr B, Sweeney E, Davies SJ, Reardon W, Horn J, MacDermot KD, Smith RA, Magee A, Donaldson A,

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Journal of medical genetics 43(5):451-6, 2006 May - Who cited this? | PubMed ID: 16183801 | Fulltext

Promoter dependence of plasmid-pluronics targeted alpha galactosidase A expression in skeletal muscle of Fabry mice.

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Lavigne MD, Pohlschmidt M, Novo JF, Higgins B, Alakhov V, Lochmuller H, Sakuraba H, Goldspink G, MacDermot K, and Górecki DC

Molecular therapy : the journal of the American Society of Gene Therapy 12(5):985-90, 2005 Nov - Who cited this? | PubMed ID: 15975851 | Fulltext

Identification of FOXP2 truncation as a novel cause of developmental speech and language deficits.

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MacDermot KD, Bonora E, Sykes N, Coupe AM, Lai CS, Vernes SC, Vargha-Khadem F, McKenzie F, Smith RL, Monaco AP, and Fisher SE

American journal of human genetics 76(6):1074, 2005 Jun - Who cited this? | PubMed ID: 15877281 | Fulltext

Hearing improvement in patients with Fabry disease treated with agalsidase alfa.

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Hajioff D, Goodwin S, Quiney R, Zuckerman J, MacDermot KD, and Mehta A

Acta paediatrica (Oslo, Norway : 1992). Supplement 92(443):28-30; discussion 27, 2003 Dec - Who cited this? | PubMed ID: 14989462 | Fulltext

Spondyloepimetaphyseal dysplasia with multiple dislocations (Hall type): three further cases and evidence of autosomal dominant inheritance.

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Hall CM, Elcioglu NH, MacDermot KD, Offiah AC, and Winter RM

Journal of medical genetics 39(9):666-70, 2002 Sep - Who cited this? | PubMed ID: 12205110 | Fulltext

Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors.

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Bennett RL, Hart KA, O'Rourke E, Barranger JA, Johnson J, MacDermot KD, Pastores GM, Steiner RD, and Thadhani R

Journal of genetic counseling 11(2):121-46, 2002 Apr - Who cited this? | PubMed ID: 12735292 | Fulltext

Assessment of health-related quality-of-life in males with Anderson Fabry Disease before therapeutic intervention.

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Miners AH, Holmes A, Sherr L, Jenkinson C, and MacDermot KD

Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation 11(2):127-33, 2002 Mar - Who cited this? | PubMed ID: 12018736 | Fulltext

Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males.

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MacDermot KD, Holmes A, and Miners AH

Journal of medical genetics 38(11):750-60, 2001 Nov - Who cited this? | PubMed ID: 11694547 | Fulltext

Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females.

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MacDermot KD, Holmes A, and Miners AH

Journal of medical genetics 38(11):769-75, 2001 Nov - Who cited this? | PubMed ID: 11732485 | Fulltext

Neuropathic pain in Anderson-Fabry disease: pathology and therapeutic options.

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MacDermot J and MacDermot KD

European journal of pharmacology 429(1-3):121-5, 2001 Oct 19 - Who cited this? | PubMed ID: 11698033 | Fulltext

Natural history of Fabry disease in affected males and obligate carrier females.

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MacDermot KD, Holmes A, and Miners AH

Journal of inherited metabolic disease 24 Suppl 2:13-4; discussion 11-2, 2001 - Who cited this? | PubMed ID: 11758673 | Fulltext

The reliability of immunohistochemistry as a prescreening method for the diagnosis of hereditary nonpolyposis colorectal cancer (HNPCC)--results of an international collaborative study.

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Müller W, Burgart LJ, Krause-Paulus R, Thibodeau SN, Almeida M, Edmonston TB, Boland CR, Sutter C, Jass JR, Lindblom A, Lubinski J, MacDermot K, Sanders DS, Morreau H, Müller A, Oliani C,

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Familial cancer 1(2):87-92, 2001 - Who cited this? | PubMed ID: 14574003 | Fulltext

Germline mosaicism for a GNAS1 mutation and Albright hereditary osteodystrophy.

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Aldred MA, Bagshaw RJ, Macdermot K, Casson D, Murch SH, Walker-Smith JA, and Trembath RC

Journal of medical genetics 37(11):E35, 2000 Nov - Who cited this? | PubMed ID: 11073544 | Fulltext

Low prevalence of germline BRCA1 mutations in early onset breast cancer without a family history.

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Ellis D, Greenman J, Hodgson S, McCall S, Lalloo F, Cameron J, Izatt L, Scott G, Jacobs C, Watts S, Chorley W, Perrett C, Macdermot K, Mohammed S, Evans G, and Mathew CG

Journal of medical genetics 37(10):792-4, 2000 Oct - Who cited this? | PubMed ID: 11183185 | Fulltext

Apparent normalisation of fetal renal size in autosomal dominant polycystic kidney disease (PKD1).

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Jeffery S, Saggar-Malik AK, Economides DL, Blackmore SE, and MacDermot KD

Clinical genetics 53(4):303-7, 1998 Apr - Who cited this? | PubMed ID: 9650770 | Fulltext

Prenatal diagnosis of autosomal dominant polycystic kidney disease (PKD1) presenting in utero and prognosis for very early onset disease.

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MacDermot KD, Saggar-Malik AK, Economides DL, and Jeffery S

Journal of medical genetics 35(1):13-6, 1998 Jan - Who cited this? | PubMed ID: 9475088 | Fulltext

A novel acid alpha-glucosidase mutation identified in a Pakistani family with glycogen storage disease type II.

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Kroos MA, Waitfield AE, Joosse M, Winchester B, Reuser AJ, and MacDermot KD

Journal of inherited metabolic disease 20(4):556-8, 1997 Aug - Who cited this? | PubMed ID: 9266392 | Fulltext

Gene transfer and expression of human alpha-galactosidase from mouse muscle in vitro and in vivo.

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Novo FJ, Górecki DC, Goldspink G, and MacDermot KD

Gene therapy 4(5):488-92, 1997 May - Who cited this? | PubMed ID: 9274727 | Fulltext

Who should talk to patients with cancer about genetics?.

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Chorley W and MacDermot K

BMJ (Clinical research ed.) 314(7078):441, 1997 Feb 8 - Who cited this? | PubMed ID: 9040404 | Fulltext

Gene therapy: panacea or placebo? I. Strategies and limitations of gene therapy.

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Górecki DC and MacDermot KD

Archivum immunologiae et therapiae experimentalis 45(5-6):367-74, 1997 - Who cited this? | PubMed ID: 9437492 | Fulltext

Gene therapy: panacea or placebo? II. Main applications of gene therapy.

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Górecki DC and MacDermot KD

Archivum immunologiae et therapiae experimentalis 45(5-6):375-81, 1997 - Who cited this? | PubMed ID: 9437493 | Fulltext

Punctate palmoplantar keratoderma and malignancy in a four-generation family.

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Stevens HP, Kelsell DP, Leigh IM, Ostlere LS, MacDermot KD, and Rustin MH

The British journal of dermatology 134(4):720-6, 1996 Apr - Who cited this? | PubMed ID: 8733379 | Fulltext

Fabry disease: fourteen alpha-galactosidase A mutations in unrelated families from the United Kingdom and other European countries.

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Davies JP, Eng CM, Hill JA, Malcolm S, MacDermot K, Winchester B, and Desnick RJ

European journal of human genetics : EJHG 4(4):219-24, 1996 - Who cited this? | PubMed ID: 8875188 | Fulltext

Osteopenia, abnormal dentition, hydrops fetalis and communicating hydrocephalus.

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MacDermot KD, Buckley B, and Van Someren V

Clinical genetics 48(4):217-20, 1995 Oct - Who cited this? | PubMed ID: 8591675 | Fulltext

Editing of human alpha-galactosidase RNA resulting in a pyrimidine to purine conversion.

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Novo FJ, Kruszewski A, MacDermot KD, Goldspink G, and Górecki DC

Nucleic acids research 23(14):2636-40, 1995 Jul 25 - Who cited this? | PubMed ID: 7503918 | Fulltext

Screening and genetic counselling for relatives of patients with breast cancer in a family cancer clinic.

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Houlston RS, Lemoine L, McCarter E, Harrington S, MacDermot K, Hinton J, Berger L, and Slack J

Journal of medical genetics 29(10):691-4, 1992 Oct - Who cited this? | PubMed ID: 1433227 | Fulltext

Microcephaly, focal segmental glomerulonephritis and marfanoid habitus in two sibs.

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Houlston RS, Iraggori S, Murday V, Scrine M, Macdermot K, Slack J, and Rees L

Clinical dysmorphology 1(2):111-3, 1992 Apr - Who cited this? | PubMed ID: 1345513 | Fulltext

Acrorenal syndrome: further observations.

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Houlston R and MacDermot K

Clinical dysmorphology 1(1):23-8, 1992 Jan - Who cited this? | PubMed ID: 1342854 | Fulltext

Short stature/short limb skeletal dysplasia with severe combined immunodeficiency and bowing of the femora: report of two patients and review.

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MacDermot KD, Winter RM, Wigglesworth JS, and Strobel S

Journal of medical genetics 28(1):10-7, 1991 Jan - Who cited this? | PubMed ID: 1999827 | Fulltext

Oculofacialbulbar palsy in mother and son: review of 26 reports of familial transmission within the 'Möbius spectrum of defects'.

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MacDermot KD, Winter RM, Taylor D, and Baraitser M

Journal of medical genetics 28(1):18-26, 1991 Jan - Who cited this? | PubMed ID: 1999828 | Fulltext

Identification of functioning sweat pores and visualization of skin temperature patterns in X-linked hypohidrotic ectodermal dysplasia by whole body thermography.

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Clark RP, Goff MR, and MacDermot KD

Human genetics 86(1):7-13, 1990 Nov - Who cited this? | PubMed ID: 2253940 | Fulltext

Investigation of three patients with the "ring syndrome", including familial transmission of ring 5, and estimation of reproductive risks.

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MacDermot KD, Jack E, Cooke A, Turleau C, Lindenbaum RH, Pearson J, Patel C, Barnes PM, Portch J, and Crawfurd MD

Human genetics 85(5):516-20, 1990 Oct - Who cited this? | PubMed ID: 2227937 | Fulltext

Female with hypohidrotic ectodermal dysplasia and de novo (X;9) translocation. Clinical documentation of the AnLy cell line case.

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MacDermot KD and Hultén M

Human genetics 84(6):577-9, 1990 May - Who cited this? | PubMed ID: 2338345 | Fulltext

Hypertrichosis cubiti (hairy elbows) and short stature: a recognisable association.

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MacDermot KD, Patton MA, Williams MJ, and Winter RM

Journal of medical genetics 26(6):382-5, 1989 Jun - Who cited this? | PubMed ID: 2738900 | Fulltext

Two brothers with facial anomalies, microcephaly, hypoplastic genitalia, and a failure of psychomotor development.

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MacDermot KD and Winter RM

American journal of medical genetics 32(1):60-2, 1989 Jan - Who cited this? | PubMed ID: 2705483 | Fulltext

Sparse hair, short stature, hypoplastic thumbs, single upper central incisor and abnormal skin pigmentation: a possible "new" form of ectodermal dysplasia.

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Winter RM, MacDermot KD, and Hill FJ

American journal of medical genetics 29(1):209-16, 1988 Jan - Who cited this? | PubMed ID: 3344769 | Fulltext

Anderson Fabry disease, a close linkage with highly polymorphic DNA markers DXS17, DXS87 and DXS88.

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MacDermot KD, Morgan SH, Cheshire JK, and Wilson TM

Human genetics 77(3):263-6, 1987 Nov - Who cited this? | PubMed ID: 2890570 | Fulltext

Autosomal recessive hereditary motor and sensory neuropathy with mental retardation, optic atrophy and pyramidal signs.

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MacDermot KD and Walker RW

Journal of neurology, neurosurgery, and psychiatry 50(10):1342-7, 1987 Oct - Who cited this? | PubMed ID: 3479531 | Fulltext

Epiphyseal dysplasia of the femoral head, mild vertebral abnormality, myopia, and sensorineural deafness: report of a pedigree with autosomal dominant inheritance.

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MacDermot KD, Roth SC, Hall C, and Winter RM

Journal of medical genetics 24(10):602-8, 1987 Oct - Who cited this? | PubMed ID: 3681905 | Fulltext

Anderson-Fabry disease--family linkage studies using two polymorphic X-linked DNA probes.

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Morgan SH, Cheshire JK, Wilson TM, MacDermot K, and Crawfurd MA

Pediatric nephrology (Berlin, Germany) 1(3):536-9, 1987 Jul - Who cited this? | PubMed ID: 2908672 | Fulltext

Radial ray defect and Duane anomaly: report of a family with autosomal dominant transmission.

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MacDermot KD and Winter RM

American journal of medical genetics 27(2):313-9, 1987 Jun - Who cited this? | PubMed ID: 3605217 | Fulltext

Gene localisation of X-linked hypohidrotic ectodermal dysplasia (C-S-T syndrome).

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MacDermot KD, Winter RM, and Malcolm S

Human genetics 74(2):172-3, 1986 Oct - Who cited this? | PubMed ID: 3464559 | Fulltext

The rate of purine synthesis de nova in blood mononuclear cells in vitro from patients with familial hyperuricaemic nephropathy.

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MacDermot KD, Allsop J, and Watts RW

Clinical science (London, England : 1979) 67(2):249-58, 1984 Aug - Who cited this? | PubMed ID: 6744792 | Fulltext

Glycine and benzoate conjugation and glycine acyltransferase activity in the developing and adult rat: possible relationships to nonketotic hyperglycinemia.

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MacDermot KD, Nelson W, Soutter V, Towne D, and Schulman JD

Developmental pharmacology and therapeutics 3(3):150-9, 1981 - Who cited this? | PubMed ID: 7338122 | Fulltext

Valproate in nonketotic hyperglycinemia.

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MacDermot K, Nelson W, Weinberg JA, and Schulman JD

Pediatrics 65(3):624, 1980 Mar - Who cited this? | PubMed ID: 6767222 | Fulltext

Attempts at use of strychnine sulfate in the treatment of nonketotic hyperglycinemia.

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MacDermot KD, Nelson W, Reichert CM, and Schulman JD

Pediatrics 65(1):61-4, 1980 Jan - Who cited this? | PubMed ID: 7355037 | Fulltext

Treatment of glutathione synthetase deficient fibroblasts by inhibiting gamma-glutamyl transpeptidase activity with serine and borate.

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Spielberg SP, Butler JD, MacDermot K, and Schulman JD

Biochemical and biophysical research communications 89(2):504-11, 1979 Jul 27 - Who cited this? | PubMed ID: 39559 | Fulltext

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Papers authored by Macdermot K

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