MacDermot, Kay D: search on Z-Library

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1

Fabry Disease in Genetic Counseling Practice: Recommendations of the National Society of Genetic Counselors

Robin L. Bennett, Kimberly A. Hart, Erin O'Rourke, John A. Barranger, Jack Johnson, Kay D. MacDermot, Gregory M. Pastores, Robert D. Steiner, Ravi Thadhani

Journal:

Journal of Genetic Counseling

Year:

2002

Language:

english

File:

PDF, 159 KB

english, 2002

2

Assessing the impact of FOXP1 mutations on developmental verbal dyspraxia

Vernes, Sonja C, MacDermot, Kay D, Monaco, Anthony P, Fisher, Simon E

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 265 KB

english, 2009

3

Nicolaides–Baraitser syndrome: Delineation of the phenotype

Sérgio B. Sousa, Omar A. Abdul-Rahman, Armand Bottani, Valérie Cormier-Daire, Alan Fryer, Gabriele Gillessen-Kaesbach, Denise Horn, Dragana Josifova, Alma Kuechler, Melissa Lees, Kay MacDermot, Alex M

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 439 KB

english, 2009

4

Female with hypohidrotic ectodermal dysplasia and de novo (X;9) translocation

Kay D. MacDermot, Maj Hultén

Journal:

Year:

1990

Language:

english

File:

PDF, 465 KB

english, 1990

5

Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD

Renard, Marjolijn, Callewaert, Bert, Baetens, Machteld, Campens, Laurence, MacDermot, Kay, Fryns, Jean-Pierre, Bonduelle, Maryse, Dietz, Harry C., Gaspar, Isabel Mendes, Cavaco, Diogo, Stattin, Eva-Le

Journal:

International Journal of Cardiology

Year:

2013

Language:

english

File:

PDF, 1.32 MB

english, 2013

6

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

John MacDermot, Kay D MacDermot

Journal:

European Journal of Pharmacology

Year:

2001

Language:

english

File:

PDF, 61 KB

english, 2001

7

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

Steve Jeffery, Anand K Saggar-Malik, Demetrios L Economides, Sally E Blackmore, Kay D MacDermot

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 3.31 MB

english, 1998

8

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

Stephen P. Spielberg, Jean DeB. Butler, Kay MacDermot, Joseph D. Schulman

Journal:

Biochemical and Biophysical Research Communications

Year:

1979

Language:

english

File:

PDF, 372 KB

english, 1979

9

Identification of FOXP2 Truncation as a Novel Cause of Developmental Speech and Language Deficits

Kay D. MacDermot, Elena Bonora, Nuala Sykes, Anne-Marie Coupe, Cecilia S.L. Lai, Sonja C. Vernes, Faraneh Vargha-Khadem, Fiona McKenzie, Robert L. Smith, Anthony P. Monaco, Simon E. Fisher

Journal:

The American Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 205 KB

english, 2005

10

Modification of the Blood--Brain Barrier: Increased Concentration and Fate of Enzymes Entering the Brain

John A. Barranger, Stanley I. Rapoport, Wendy R. Fredericks, Peter G. Pentchev, Kaye D. MacDermot, Jan K. Steusing and Roscoe O. Brady

Journal:

Proceedings of the National Academy of Sciences

Year:

1979

Language:

english

File:

PDF, 1.44 MB

english, 1979

11

Social and Moral Implications Arising from Genetic Screening and Genetic Engineering

Goldspink, Geoffrey, MacDermot, Kay D., Novo, Francisco J.

Journal:

Medical Principles and Practice

Year:

1998

File:

PDF, 207 KB

1998

12

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

Stephen H. Morgan, John K. Cheshire, Teresa M. Wilson, Kay MacDermot, Martin d'A Crawfurd

Journal:

Pediatric Nephrology

Year:

1987

Language:

english

File:

PDF, 372 KB

english, 1987

13

The rate of Purine Synthesis de nova in Blood Mononuclear Cells in vitro from Patients with Familial Hyperuricaemic Nephropathy

Macdermot, Kay D., Allsop, Jennifer, Watts, R. W. E.

Journal:

Clinical Science

Year:

1984

Language:

english

File:

PDF, 709 KB

english, 1984

14

Systematic search for neutropenia should be part of the first screening in patients with poikiloderma

Juliette Piard, Muriel Holder-Espinasse, Bernard Aral, Nadège Gigot, Marlène Rio, Marc Tardieu, Eve Puzenat, Alice Goldenberg, Annick Toutain, Jerôme Franques, Kay MacDermot, Didier Bessis, Odile Bout

Journal:

European Journal of Medical Genetics

Year:

2012

Language:

english

File:

PDF, 472 KB

english, 2012

15

Dual copy number variants involving 16p11 and 6q22 in a case of childhood apraxia of speech and pervasive developmental disorder

Newbury, Dianne F, Mari, Francesca, Sadighi Akha, Elham, MacDermot, Kay D, Canitano, Roberto, Monaco, Anthony P, Taylor, Jenny C, Renieri, Alessandra, Fisher, Simon E, Knight, Samantha J L

Journal:

European Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 707 KB

english, 2013

16

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

Dr. Kay D. MacDermot, Robin M. Winter, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1987

Language:

english

File:

PDF, 1.06 MB

english, 1987

17

Social and Moral Implications Arising from Genetic Screening and Genetic Engineering

Goldspink, Geoffrey, MacDermot, Kay D., Novo, Francisco J.

Journal:

Medical Principles and Practice

Year:

1998

Language:

english

File:

PDF, 207 KB

english, 1998

18

Glycine and Benzoate Conjugation and Glycine Acyltransferase Activity in the Developing and Adult Rat: Possible Relationships to Nonketotic Hyperglycinemia

MacDermot, Kaye D., Nelson, William, Soutter, Valencia, Towne, David, Schulman, Joseph D.

Journal:

Developmental Pharmacology and Therapeutics

Year:

1981

File:

PDF, 595 KB

1981

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