thumbnail of casper-summaryPUBLICATIONS FROM OUR MEDICAL ADVISORY GROUP

Professor Green’s Presentation – Families Day 2016

Question to the NSA Medical Advisory Group 2016

Questions to the NSA Medical Advisory Group 2015

Dr Sahar Mansour on Lymphoedema and current research

Lymphatic problems in Noonan Syndrome

CLINICAL GUIDELINES ON THE MANAGEMENT OF NOONAN SYNDROME

NS Guidelines

NOONAN SYNDROME FACTSHEETS

Speech and Language Therapy in Noonan syndrome

Cardiovascular Aspects of Noonan Syndrome

Eye Features in Noonan Syndrome

Feeding Problems in Noonan Syndrome

Growth in Noonan syndrome

Information for Teachers 2012

Physiotherapy in Noonan syndrome

 

Publications on Noonan Syndrome from our medical advisor:

A Noonan-like short stature syndrome with sparse hair. Baraitser M and Patton MA.  J Med Genet; 23:161-4 1986.

Cutaneous lymphangioma and amegakaryocytic thrombocytopenia in Noonan’s syndrome Evans DGR, Lonsdale RN, Patton MA  Clin Genet 39:228-232  1991

A clinical study of Noonan syndrome.  Sharland M, Burch M, McKenna WM, Patton MA. Arch Dis Child 67:178-183  1992

Absence of linkage of Noonan syndrome to the neurofibromatosis type I locus.  Sharland M, Taylor R, Patton MA, Jeffery S. J Med Genet 29:188-189 1992

Coagulation-factor deficiencies and abnormal bleeding in Noonan’s syndrome. Sharland M, Patton MA, Talbot S, Chitolie A, Bevan DH. Lancet 339:19-21  1992

Noonan syndrome. Elsawi MM, Patton MA. Maternal and Child  Health 17:310-4 ,1992

Photoanthropometric study of facial growth in Noonan Syndrome. Sharland M, Morgan M, Patton MA. Amer J Med  Genet 45:430-437 1993

Genetic counselling in Noonan Syndrome. Sharland M, Morgan M, Smith G, Burch M, Patton MA. Amer J Med  Genet 45:437-440  1993

Myocardial disarray in Noonan syndrome. Burch M, Mann JM, Sharland M, Shinebourne EA, Patton MA, McKenna W. Brit Heart J 68:586-8  1993

Cardiological abnormalities in Noonan syndrome : Phenotypic  diagnosis and echocardiographic assessment of 118 patients. Burch M, Sharland M, Shinebourne EA, Smith G, Patton MA, McKenna W. J Amer Coll Cardiol 22:1189-92  1993

Genital tract function in men with Noonan syndrome.   Elsawi MA, Pryor JP, Klufio G, Barnes C, Patton MA.  J Med Genet 31: 468-471  1994

Noonan syndrome. Patton MA. Growth, Genetics and Hormones Dec 1994

Mapping a gene for Noonan syndrome to the long arm of chromosome 12. Jamieson R, van der Burgt I, Brady A, van Reen M, Elsawi M, Hols F, Jeffery S, Patton MA, Mariman E. Nature Genetics 8:357-360 1994

Abdominal ultrasound in Noonan syndrome: a study of 44 patients. George CD, Patton MA, Elsawi M, Sharland M, Adams EJ. Paediatric Radiology 23:316-8   1993

The Short-term Effects of Growth Hormone Therapy on Height Velocity and Cardiac Ventricular Wall Thickness in Children with Noonan’s syndrome. Cotterill AM, McKenna WJ, Brady A, Elsawi M, Yamada M, Camacho-Hubner C, Kelnar C, Dunger DB, Patton MA, Savage M.   J Clin Endocrinol Metabol 81: 2291-2297  1996

Web Neck anomaly and its association with congenital heart disease.Brady A, Patton MA . Amer J Med Genet 64:605  1996

Outcome of chromosomally normal livebirths with increased fetal nuchal translucency at 10-14 weeks gestation. Brady AF, Pandya PP, Yuksel B, Greenough A, Patton MA, Nicholiades KH  J Med Genet  35:222-225 (1998)

Further delineation of the critical region for Noonan syndrome on the long  arm of chromosome 12. Brady AF.  Jamieson CR.  van der Burgt I.  Crosby A.  van Reen M.  Kremer H.   Mariman E.  Patton MA.  Jeffery S.  Eur J Hum Genet.  5:336-7, 1997

Noonan syndrome. Ion A. Patton MA   Clinical Paediatrics 8:113-116 1998

Clinical and molecular findings in a patient with a deletion on the long arm of chromosome 12. Brady AF, Elsawi MM, Jamieson CR, Marks K, Jeffery S, Patton MA, Murtaza L, Savage MO..J Med Genet. 36:939-41.(1999)

Detailed mapping, mutation analysis, and intragenic polymorphism identification in candidate Noonan syndrome genes MYL2, DCN, EPS8, and RPL6. Ion A, Crosby AH, Kremer H, Kenmochi N, Van Reen M, Fenske C, Van Der Burgt I, Brunner HG, Montgomery K, Kucherlapati RS, Patton MA, Page C, Mariman E,Jeffery S.J Med Genet. 37:884-6.(2000)

Growth hormone therapy and growth in children with Noonan syndrome : results of 3 years follow up . MacFarlane CE, Brown DC, Johnston LB, Patton MA, Dunger DB, Savage MO, McKenna WJ, Kelnar CJ. J Clin Endocrinol Metab 2001 86: 1953-6

Mutations in the protein tyrosine phosphatase gene PTPN11 cause Noonan syndrome.

Tartaglia M, Mehler EL, Goldberg R, Zampino G, Brunner H, Kremer H, van der Burgt I, Crosby A H, Ion A, Jeffery S, Kalidas K, Patton MA, Kucherlapati RS, Gelb B. Nature Genetics 2001; 29:465-8

PTPN11 mutations in Noonan syndrome: Molecular Spectrum, Genotype-phenotype Correlation, and Phenotypic Heterogeneity. Tartaglia M, Kalidas K, Shaw A, Song X, Musat DL, Van der Burgt I, Brunner HG, Bertola DR, Crosby A, Ion A, Kucherlapati RS, Jeffery S, Patton MA, Gelb BD. Am J Hum Genet 70:1555-63  2002

Growth hormone therapy in Noonan’s syndrome: non-cardiomyopathic congenital

heart disease does not adversely affect growth improvement. Brown DC, Macfarlane CE, McKenna WJ, Patton MA, Dunger DB, Savage MO, Kelnar CJ. J Pediatr Endocrinol Metab. 2002 15:851-2.

Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome. Ion A, Tartaglia M, Song X, Kalidas K, van der Burgt I, Shaw AC, Ming JE, Zampino G, Zackai EH, Dean JC, Somer M, Parenti G, Crosby AH, Patton MA, Gelb BD, Jeffery S.  Hum Genet 2002 111:421-7

Different mutations in the NF1 gene are associated with Neurofibromatosis-Noonan syndrome (NFNS). Barelle D, Mattocks C, Kalidas K, Emslie F, Whittaker J, Lees M, Ragge N, Patton MA, Winter RM, Ffrench-Constant C.  Am J Med Genet  2003  119A 1-8

Genetic heterogeneity in LEOPARD syndrome: two families with no mutations in PTPN11. Kalidas K, Shaw AC, Crosby AH, Newbury-Ecob R, Greenhalgh L, Temple IK, Law C, Patel A, Patton MA, Jeffery S. J Hum Genet. 2005;50:21-5.

Psychological profile of children with Noonan syndrome. Lee D, Portnoy S, Hill P, Gilberg C, Patton MA Developmental Medicine & Child Neurology 2005 47: 35-38

Genotypic and phenotypic characterization of Noonan syndrome: new data and review of the literature Jongmans M, Sistermans EA, Rikken A, Nillesen WM, Tamminga R, Patton M, Maier EM, Tartaglia M, Noordam K, van der Burgt I..Am J Med Genet A. 2005  134:165-70.

The natural history of Noonan syndrome: a long-term follow-up study.. Shaw AC, Kalidas K, Crosby AH, Jeffery S, Patton MA Arch Dis Child. 2007 Feb;92(2):128-32

Early fetal death associated with compound heterozygosity for Noonan syndrome-causative PTPN11 mutations. Becker K, Hughes H, Howard K, Armstrong M, Roberts D, Lazda EJ, Short JP, Shaw A, Patton MA, Tartaglia M.    Am J Med Genet A. 2007, 143(11):1249-52.

Prevalence and clinical significance of cardiovascular abnormalities in patients with the LEOPARD syndrome. Limongelli G, Pacileo G, Marino B, Digilio MC, Sarkozy A, Elliott P, Versacci P, Calabro P, De Zorzi A, Di Salvo G, Syrris P, Patton M, McKenna WJ,

Dallapiccola B, Calabro R Am J Cardiol. 2007 Aug15;100(4):736-41

A restricted spectrum of NRAS mutations causes Noonan syndrome. Cirstea IC, Kutsche K, Dvorsky R, Gremer L, Carta C, Horn D, Roberts AE, Lepri F, Merbitz-Zahradnik T, Konig R, Kratz CP, Pantaleoni F, Dentici ML, Joshi VA, Kucherlapati RS, Mazzanti L, Mundlos S, Patton MA, Silengo MC, Rossi C, Zampino G, Digilio C, Stuppia L, Seemanova E, Pennacchio LA, Gelb BD, Dallapiccola B, Wittinghofer A, Ahmadian MR, Tartaglia M, Zenker M.   Nature Genet. (2010)  42:27-9.

Rauen KA, Huson SM, Burkitt-Wright E, Evans DG, Farschtschi S, Ferner RE, Gutmann DH, Hanemann CO, Kerr B, Legius E, Parada LF, Patton M, Peltonen J, Ratner N, Riccardi VM, van der Vaart T, Vikkula M, Viskochil DH, Zenker M, Upadhyaya M. Recent developments in neurofibromatoses and RASopathies: management, diagnosis and current and future therapeutic avenues. Am J Med Genet A. 2015 Jan;167A(1):1-10.