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51

Two novel STRA6 mutations in a patient with anophthalmia and diaphragmatic eventration

B. West, K.E. Bove, A.M. Slavotinek

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 113 KB

english, 2009

52

Novel FGFR2 deletion in a patient with Beare–Stevenson-like syndrome

Anne Slavotinek, Howard Crawford, Mahin Golabi, Cathy Tao, Hazel Perry, Sneha Oberoi, Karin Vargervik, Michael Friez

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 139 KB

english, 2009

53

A maternally inherited chromosome 18q22.1 deletion in a male with late-presenting diaphragmatic hernia and microphthalmia–evaluation of DSEL as a candidate gene for the diaphragmatic defect

Hatem Zayed, Ryan Chao, Ali Moshrefi, Nelson LopezJimenez, Allen Delaney, Justin Chen, Gary M. Shaw, Anne M. Slavotinek

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 190 KB

english, 2010

54

Clinical report of microphthalmia and optic nerve coloboma associated with a de novo microdeletion of chromosome 16p11.2

Tanya M. Bardakjian, Simon Kwok, Anne M. Slavotinek, Adele S. Schneider

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 87 KB

english, 2010

55

A novel EFNB1 mutation (c.712delG) in a family with craniofrontonasal syndrome and diaphragmatic hernia

Jacob Hogue, Suma Shankar, Hazel Perry, Reena Patel, Karin Vargervik, Anne Slavotinek

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 148 KB

english, 2010

56

A de novo deletion of CALN1 in a male with a bilateral diaphragmatic defect does not definitely cause this malformation

Anne M. Slavotinek, Jill A. Rosenfeld, Ryan Chao, Dimitry Niyazov, Marthand Eswara, Patricia I. Bader, David W. Stockton, Pawel Stankiewicz, Margaret P. Adam

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 151 KB

english, 2011

57

Congenital diaphragmatic hernia in Smith–Magenis syndrome: A possible locus at chromosome 17p11.2

E.F. Sanford, K. Bermudez-Wagner, L.J.B. Jeng, K.A. Rauen, Anne M. Slavotinek

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 248 KB

english, 2011

58

Single gene disorders associated with congenital diaphragmatic hernia

Anne M. Slavotinek

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Year:

2007

Language:

english

File:

PDF, 168 KB

english, 2007

59

Modulation of RANKL and osteoprotegerin expression in synovial tissue from patients with rheumatoid arthritis in response to disease-modifying antirheumatic drug treatment and correlation with radiologic outcome

David Haynes, Tania Crotti, Helen Weedon, John Slavotinek, Virginia Au, Mark Coleman, Peter J. Roberts-Thomson, Michael Ahern, Malcolm D. Smith

Journal:

Arthritis Care & Research

Year:

2008

Language:

english

File:

PDF, 881 KB

english, 2008

60

Surgical objectives in unresected cancer of the head of the pancreas

R. G. Elmslie, A. H. Slavotinek

Journal:

British Journal of Surgery

Year:

1972

Language:

english

File:

PDF, 538 KB

english, 1972

61

VAX1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: The first description of a VAX1 phenotype in humans

Anne M. Slavotinek, Ryan Chao, Tomas Vacik, Mani Yahyavi, Hana Abouzeid, Tanya Bardakjian, Adele Schneider, Gary Shaw, Elliott H. Sherr, Greg Lemke, Mohammed Youssef, Daniel F. Schorderet

Journal:

Year:

2012

Language:

english

File:

PDF, 182 KB

english, 2012

62

Two graph theory based methods for identifying the pectoral muscle in mammograms

Fei Ma, Mariusz Bajger, John P. Slavotinek, Murk J. Bottema

Journal:

Pattern Recognition

Year:

2007

Language:

english

File:

PDF, 811 KB

english, 2007

63

The role of intracellular labile zinc (Zn(II)) in the control of apoptosis

P.D. Zalewski, S. Millard, O. Kapaniris, A. Slavotinek, S.F. Lincoln, A.D. Ward

Journal:

Journal of Inorganic Biochemistry

Year:

1997

Language:

english

File:

PDF, 101 KB

english, 1997

64

Detection and classification of lobular and DCIS (small cell) microcalcifications in digital mammograms

Murk J. Bottema, John P. Slavotinek

Journal:

Pattern Recognition Letters

Year:

2000

Language:

english

File:

PDF, 149 KB

english, 2000

65

Sudden death caused by pulmonary thromboembolism in Proteus syndrome

AM Slavotinek, SJ Vacha, KF Peters, LG Biesecker

Journal:

Clinical Genetics

Year:

2000

Language:

english

File:

PDF, 54 KB

english, 2000

66

Rheumatological presentations of anticoagulation related hemorrhages

S. R. Cox, M. J. Ahern, M. D. Smith, J. P. Slavotinek, J. G. Walker, A. J. Smith, P. J. Roberts-Thomson

Journal:

International Journal of Rheumatic Diseases

Year:

2003

Language:

english

File:

PDF, 123 KB

english, 2003

67

Extradural cavernous haemangioma simulating a disc protrusion

JP Slavotinek, S Fowler, MR Sage, BP Brophy

Journal:

Journal of Medical Imaging and Radiation Oncology

Year:

1999

Language:

english

File:

PDF, 54 KB

english, 1999

68

Orthopaedic Radiology: A Practical Approach

John Slavotinek

Journal:

Journal of Medical Imaging and Radiation Oncology

Year:

2001

Language:

english

File:

PDF, 36 KB

english, 2001

69

MRI of the Musculoskeletal System

John Slavotinek

Journal:

Journal of Medical Imaging and Radiation Oncology

Year:

2002

Language:

english

File:

PDF, 42 KB

english, 2002

70

Subperiosteal aneurysmal bone cyst with associated bone marrow oedema: An unusual appearance

John P Slavotinek, Andrew Wicks, Anthony J Spriggins

Journal:

Journal of Medical Imaging and Radiation Oncology

Year:

2003

Language:

english

File:

PDF, 161 KB

english, 2003

71

Absence of mutations inNR2E1andSNX3in five patients with MMEP (microcephaly, microphthalmia, ectrodactyly, and prognathism) and related phenotypes

Ravinesh A Kumar, David B Everman, Chad T Morgan, Anne Slavotinek, Charles E Schwartz, Elizabeth M Simpson

Journal:

BMC Medical Genetics

Year:

2007

Language:

english

File:

PDF, 564 KB

english, 2007

72

Pre-surgical radiologic identification of peri-prosthetic osteolytic lesions around TKRs: a pre-clinical investigation of diagnostic accuracy

Timothy P Kurmis, Andrew P Kurmis, David G Campbell, John P Slavotinek

Journal:

Journal of Orthopaedic Surgery and Research

Year:

2008

Language:

english

File:

PDF, 436 KB

english, 2008

73

Bony exostosis of the atlas with resultant cranial nerve palsy

J. P. Slavotinek, B. P. Brophy, M. R. Sage

Journal:

Year:

1991

Language:

english

File:

PDF, 381 KB

english, 1991

74

Calcified cerebral sinus thrombosis in infancy —CT appearances with pathological correlation

R. P. Davies, J. P. Slavotinek, S. L. James, A. D. Morphett

Journal:

Pediatric Radiology

Year:

1989

Language:

english

File:

PDF, 729 KB

english, 1989

75

VIP secreting tumours in infancy

R. P. Davies, J. P. Slavotinek, S. F. A. Dorney

Journal:

Pediatric Radiology

Year:

1990

Language:

english

File:

PDF, 1.18 MB

english, 1990

76

Radiological evaluation of the ascending aorta following repair of type A dissection

John Slavotinek, Simon W. Kendall, Christopher D. R. Flower, Adrian K. Dixon, Francis C. Wells, Stephen R. Large

Journal:

CardioVascular and Interventional Radiology

Year:

1993

Language:

english

File:

PDF, 480 KB

english, 1993

77

MRI of car occupants with whiplash injury

F. Voyvodic, J. Dolinis, V. M. Moore, G. A. Ryan, J. P. Slavotinek, A. M. Whyte, R. D. Hoile, G. W. Taylor

Journal:

Year:

1997

Language:

english

File:

PDF, 85 KB

english, 1997

78

Inflammatory pseudotumour of the pancreas in a child

J. P. Slavotinek, A. J. Bourne, M. R. Sage, J. K. Freeman

Journal:

Pediatric Radiology

Year:

2000

Language:

english

File:

PDF, 108 KB

english, 2000

79

Mutation analysis of theMKKSgene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients

A. Slavotinek, C. Searby, L. Al-Gazali, R. Hennekam, C. Schrander-Stumpel, M. Orcana-Losa, S. Pardo-Reoyo, A. Cantani, D. Kumar, Q. Capellini, G. Neri, E. Zackai, L. Biesecker

Journal:

Year:

2002

Language:

english

File:

PDF, 90 KB

english, 2002

80

Examination ofFGFRL1as a candidate gene for diaphragmatic defects at chromosome 4p16.3 shows thatFgfrl1null mice have reduced expression ofTpm3, sarcomere genes andLrtm1in the diaphragm

Nelson LopezJimenez, Simon Gerber, Vlad Popovici, Sonia Mirza, Kirsten Copren, Linda Ta, Gary M. Shaw, Beat Trueb, Anne M. Slavotinek

Journal:

Year:

2010

Language:

english

File:

PDF, 460 KB

english, 2010

81

ACTH receptor mutation in a girl with familial glucocorticoid deficiency

Anne M. Slavotinek, Jane A. Hurst, David Dunger, Andrew ONI Wilkie

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 913 KB

english, 1998

82

Sequence variants in the HLX gene at chromosome 1q41-1q42 in patients with diaphragmatic hernia

AM Slavotinek, A Moshrefi, N Lopez Jiminez, R Chao, A Mendell, GM Shaw, LA Pennacchio, MD Bates

Journal:

Clinical Genetics

Year:

2009

Language:

english

File:

PDF, 461 KB

english, 2009

83

Abdominal cerebrospinal fluid pseudocyst

Ramon Pathi, Michael Sage, John Slavotinek, Ahmad Hanieh

Journal:

Journal of Medical Imaging and Radiation Oncology

Year:

2004

Language:

english

File:

PDF, 120 KB

english, 2004

84

Abdominal manifestations of cystic fibrosis in adults: A review

S Constantine, VWK Au, JP Slavotinek

Journal:

Journal of Medical Imaging and Radiation Oncology

Year:

2004

Language:

english

File:

PDF, 628 KB

english, 2004

85

Role of ultrasound in assessment of early rheumatoid arthritis

MD Hyzy, J Slavotinek, MD Smith

Journal:

Journal of Medical Imaging and Radiation Oncology

Year:

2007

Language:

english

File:

PDF, 81 KB

english, 2007

86

Intra-articular fibrous band of the ankle: An uncommon cause of post-traumatic ankle pain

JP Slavotinek, S Zadow, DK Martin

Journal:

Journal of Medical Imaging and Radiation Oncology

Year:

2006

Language:

english

File:

PDF, 193 KB

english, 2006

87

THE RESULTS OF CORACO-CLAVICULAR SLINGS FOR ACROMIO-CLAVICULAR DISLOCATION

M. Clayer, J. Slavotinek, J. Krishnan

Journal:

ANZ Journal of Surgery

Year:

1997

Language:

english

File:

PDF, 1.41 MB

english, 1997

88

Associates of change in liver fat content in the morbidly obese after laparoscopic gastric banding surgery

M. L. Phillips, S. Boase, S. Wahlroos, M. Dugar, L. Kow, J. Stahl, J. P. Slavotinek, R. Valentine, J. Toouli, C. H. Thompson

Journal:

Diabetes, Obesity and Metabolism

Year:

2008

Language:

english

File:

PDF, 126 KB

english, 2008

89

Childhood Vulval Lichen Sclerosus in a Patient with Ectodermal Dysplasia and Uncombable Hair

Jenny Powell, Fenella Wojnarowska, Rodney Dawber, Anne Slavotinek, Susan Huson

Journal:

Pediatric Dermatology

Year:

1998

Language:

english

File:

PDF, 397 KB

english, 1998

90

Uniparental Disomy

Dawn H. Siegel, Anne Slavotinek

Journal:

Pediatric Dermatology

Year:

2005

Language:

english

File:

PDF, 149 KB

english, 2005

91

Very high GFR in cancer patients undergoing chemotherapy: prevalence, carboplatin dosing patterns and chemotherapy toxicity

Amitesh Chandra ROY, David Neil JONES, John P SLAVOTINEK, Ganessan KICHENADASSE, Chris KARAPETIS, Earl LAM, Sarwan BISHNOI, Bogda KOCZWARA

Journal:

Asia-Pacific Journal of Clinical Oncology

Year:

2011

Language:

english

File:

PDF, 95 KB

english, 2011

92

10.1038/75637

Biesecker, Leslie G., Stone, Deborah L., Slavotinek, Anne, Bouffard, Gerard G., Banerjee-Basu, Sharmila, Baxevanis, Andreas D., Barr, Mason

Journal:

Nature Genetics

Year:

2000

Language:

english

File:

PDF, 298 KB

english, 2000

93

10.1038/79116

Sheffield, Val C., Slavotinek, Anne M., Stone, Edwin M., Mykytyn, Kirk, Heckenlively, John R., Green, Jane S., Heon, Elise, Musarella, Maria A., Parfrey, Patrick S., Biesecker, Leslie G.

Journal:

Nature Genetics

Year:

2000

Language:

english

File:

PDF, 153 KB

english, 2000

94

Clinical utility gene card for: Bardet–Biedl syndrome

Slavotinek, Anne, Beales, Philip

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 122 KB

english, 2010

95

Array comparative genomic hybridization in patients with congenital diaphragmatic hernia: mapping of four CDH-critical regions and sequencing of candidate genes at 15q26.1–15q26.2

Slavotinek, Anne M, Moshrefi, Ali, Davis, Randy, Leeth, Elizabeth, Schaeffer, G Bradley, Burchard, González Esteban, Shaw, Gary M, James, Bristow, Ptacek, Louis, Pennacchio, Len A

Journal:

European Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 173 KB

english, 2006

96

Candidate genes for congenital diaphragmatic hernia from animal models: sequencing of FOG2 and PDGFRα reveals rare variants in diaphragmatic hernia patients

Bleyl, S B, Moshrefi, A, Shaw, G M, Saijoh, Y, Schoenwolf, G C, Pennacchio, L A, Slavotinek, A M

Journal:

European Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 320 KB

english, 2007

97

The ACTN3 R577X nonsense allele is under-represented in elite-level strength athletes

Roth, Stephen M, Walsh, Sean, Liu, Dongmei, Metter, E Jeffrey, Ferrucci, Luigi, Slavotinek, Anne M

Journal:

European Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 83 KB

english, 2007

98

The Early Effects of Weight Loss Surgery on Regional Adiposity

Madeleine L Phillips, Mark C Lewis, Veronica Chew, Lilian Kow, John P Slavotinek, Lynne Daniels, Robin Valentine, Jim Toouli, Campbell H Thompson

Journal:

Obesity Surgery

Year:

2005

Language:

english

File:

PDF, 138 KB

english, 2005

99

Change in Liver Size and Fat Content after Treatment with Optifast®Very Low Calorie Diet

Mark C Lewis, Madeleine L Phillips, John P Slavotinek, Lilian Kow, Campbell H Thompson, Jim Toouli

Journal:

Obesity Surgery

Year:

2006

Language:

english

File:

PDF, 74 KB

english, 2006

100

The frequency of micronuclei in bone-marrow erythroblasts during the treatment of childhood acute lymphoblastic leukaemia

Anne Slavotinek, Ann Thomson, Paul Eynaud, Paul Perry, C.Michael Steel, O.B. Eden

Journal:

Mutation Research Letters

Year:

1993

Language:

english

File:

PDF, 492 KB

english, 1993