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51

Leigh syndrome and hypertrophic cardiomyopathy in an infant with a mitochondrial DNA point mutation (T8993G)

Gregory M. Pastores, Filippo M. Santorelli, Sara Shanske, Bruce D. Gelb, Billie Fyfe, David Wolfe, Judith P. Willner

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 696 KB

english, 1994

52

Mitochondrial myopathy with anemia, cardiomyopathy, and lactic acidosis: A distinct late onset mitochondrial disorder

Johan L. K. Van Hove, Sara Shanske, Federica Ciacci, Scott Ballinger, John S. Shoffner, Douglas C. Wallace, Takashi Hanioka, Karl Folkers, Edward H. Bossen, Peter S. Kussin, Jeffrey M. Kopita, Stephen

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 930 KB

english, 1994

53

Myopathy, lactic acidosis, and sideroblastic anemia: A new syndrome

Aida Inbal, Nelly Avissar, Mati Shaklai, Arieh Kuritzky, Abel Schejter, Eitan Ben-David, Sara Shanske, Ben-Zion Garty

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 830 KB

english, 1995

54

Mutations in IRF6 do not cause Bartsocas–Papas syndrome in a family with two affected sibs

A.L. Shanske, S.A. Hoper, K. Krahn, B.C. Schutte

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 129 KB

english, 2004

55

Varying loads of the mitochondrial DNA A3243G mutation in different tissues: Implications for diagnosis

Sara Shanske, Jacklyn Pancrudo, Petra Kaufmann, Kristin Engelstad, Sarah Jhung, Jiesheng Lu, Ali Naini, Dr. Salvatore DiMauro, Darryl C. De Vivo

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 102 KB

english, 2004

56

Detection of an interstitial deletion of 2q21-22 by high resolution comparative genomic hybridization in a child with multiple congenital anomalies and an apparent balanced translocation

A.L. Shanske, L. Edelmann, N.B. Kardon, P. Gosset, B. Levy

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 244 KB

english, 2004

57

Trisomy 18 in a second 20-year-old woman

Alan L. Shanske

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 57 KB

english, 2006

58

T-genes and limb bud development

Mary King, Jelena S. Arnold, Alan Shanske, Bernice E. Morrow

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 134 KB

english, 2006

59

Split hand foot malformation (SHFM): An introduction

Alan L. Shanske

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 68 KB

english, 2006

60

A syndrome of holoprosencephaly, recurrent infections, and monocytosis

Paul T. Jubinsky, Alan L. Shanske, Fiona J. Pixley, Cristina Montagna, Mary K. Short

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 235 KB

english, 2006

61

Mutations in GJB2, GJB6, and mitochondrial DNA are rare in African American and Caribbean Hispanic individuals with hearing impairment

Joy Samanich, Christina Lowes, Robert Burk, Sara Shanske, J. Lu, Alan Shanske, Bernice E. Morrow

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 274 KB

english, 2007

62

Chorea associated with antiphospholipid antibodies in a patient with Kabuki syndrome

Pooja Gidwani, Eric Segal, Alan Shanske, Catherine Driscoll

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 119 KB

english, 2007

63

Sacral appendage in a child with an FGFR2 mutation: A report and review

Alan L. Shanske, David Staffenberg, James T. Goodrich

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 175 KB

english, 2008

64

Mesiodens, a new microform of holoprosencephaly?

Man Yee Chan, Keivan Shifteh, Alan L. Shanske

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 130 KB

english, 2009

65

Clinical and molecular characterization of a patient with Langer–Giedion syndrome and mosaic del(8)(q22.3q24.13)

Alan L. Shanske, Ankita Patel, Sou Saukam, Brynn Levy, Hermann-Josef Lüdecke

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 254 KB

english, 2008

66

Longitudinal changes of mtDNA A3243G mutation load and level of functioning in MELAS

Mahsa Mehrazin, Sara Shanske, Petra Kaufmann, Ying Wei, Jorida Coku, Kristin Engelstad, Ali Naini, Darryl C. De Vivo, Salvatore DiMauro

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 144 KB

english, 2009

67

Mosaicism in Marshall syndrome

Leena Ala-Kokko, Alan L. Shanske

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 139 KB

english, 2009

68

Wolf–Hirschhorn syndrome and ectrodactyly: New findings and a review of the literature

Alan L. Shanske, Naomi Yachelevich, Leena Ala-Kokko, Jay Leonard, Brynn Levy

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 178 KB

english, 2010

69

Delineation of the breakpoints of pure duplication 3q due to a de novo duplication event using SOMA

A.L. Shanske, J. Leonard, O. Nahum, D.L. Coppock, B. Levy

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 155 KB

english, 2010

70

Introductory comments on special section—New developments in craniofacial biology: Putting on a happy face

Alan L. Shanske

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 83 KB

english, 2010

71

Retinoid signaling in inner ear development: A “Goldilocks” phenomenon

Dorothy A. Frenz, Wei Liu, Ales Cvekl, Qing Xie, Lesley Wassef, Loredana Quadro, Karen Niederreither, Mark Maconochie, Alan Shanske

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 582 KB

english, 2010

72

Interparietal bone (Os Incae) in craniosynostosis

June K. Wu, James T. Goodrich, Chiemezie C. Amadi, Todd Miller, John B. Mulliken, Alan L. Shanske

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 387 KB

english, 2011

73

Genomic strategy identifies a missense mutation in WD-repeat domain 65 (WDR65) in an individual with Van der Woude syndrome

Nicholas K. Rorick, Akira Kinoshita, Jason L. Weirather, Myriam Peyrard-Janvid, Renata L. L. Ferreira de Lima, Martine Dunnwald, Alan L. Shanske, Danilo Moretti-Ferreira, Hannele Koillinen, Juha Kere,

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 404 KB

english, 2011

74

The proximal chromosome 14q microdeletion syndrome: Delineation of the phenotype using high resolution SNP oligonucleotide microarray analysis (SOMA) and review of the literature

Edina Torgyekes, Alan L. Shanske, Kwame Anyane-Yeboa, Odelia Nahum, Sara Pirzadeh, Einat Blumfield, Vaidehi Jobanputra, Dorothy Warburton, Brynn Levy

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 1.15 MB

english, 2011

75

Lack of paternal inheritance of muscle mitochondrial DNA in sporadic mitochondrial myopathies

Massimiliano Filosto, Michelangelo Mancuso, Cristofol Vives-Bauza, Maya R. Vilà, Sara Shanske, Michio Hirano, Antoni L. Andreu, Salvatore DiMauro

Journal:

Annals of Neurology

Year:

2003

Language:

english

File:

PDF, 49 KB

english, 2003

76

McArdle's disease: Biochemical and molecular genetic studies

Serenella Servidei, Sara Shanske, Massimo Zeviani, Roger Lebo, Robert Fletterick, Dr. Salvatore DiMauro

Journal:

Annals of Neurology

Year:

1988

Language:

english

File:

PDF, 810 KB

english, 1988

77

Deletion of mitochondrial DNA in patients with combined features of kearns-sayre and MELAS syndromes

Dr Mary L. Zupanc, Carlos T. Moraes, Sara Shanske, Craig B. Langman, Emma Ciafaloni, Salvatore DiMauro

Journal:

Annals of Neurology

Year:

1991

Language:

english

File:

PDF, 477 KB

english, 1991

78

MELAS: Clinical features, biochemistry, and molecular genetics

E. Ciafaloni, E. Ricci, S. Shanske, C. T. Moraes, G. Silvestri, M. Hirano, S. Simonetti, C. Angelini, M. A. Donati, C. Garcia, A. Martinuzzi, R. Mosewich, S. Servidei, E. Zammarchi, E. Bonilla, D. C.

Journal:

Annals of Neurology

Year:

1992

Language:

english

File:

PDF, 704 KB

english, 1992

79

Glycogen branching enzyme deficiency in adult polyglucosan body disease

Claudio Bruno, Serenella Servidei, Sara Shanske, George Karpati, Stirling Carpenter, David McKee, Richard J. Barohn, Michio Hirano, Ziad Rifai, Dr. Salvatore Dimauro

Journal:

Annals of Neurology

Year:

1993

Language:

english

File:

PDF, 856 KB

english, 1993

80

The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome

Filippo M. Santorelli, Sara Shanske, Alfons Macaya, Darryl C. DeVivo, Dr. Salvatore DiMauro

Journal:

Annals of Neurology

Year:

1993

Language:

english

File:

PDF, 729 KB

english, 1993

81

A splice junction mutation in a new myopathic variant of phosphoglycerate kinase deficiency (PGK North Carolina)

Seiichi Tsujino, Paola Tonin, Sara Shanske, Virinder Nohria, Rose-Mary Boustany, Darrell Lewis, Yuan-Tuong Chen, Dr. Salvatore DiMauro

Journal:

Annals of Neurology

Year:

1994

Language:

english

File:

PDF, 560 KB

english, 1994

82

Molecular genetic studies of muscle lactate dehydrogenase deficiency in white patients

Seiichi Tsujino, Sara Shanske, A. Keith W. Brownell, Ronald G. Haller, Dr. Salvatore DiMauro

Journal:

Annals of Neurology

Year:

1994

Language:

english

File:

PDF, 557 KB

english, 1994

83

A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis

Dominic Thyagarajan, Sara Shanske, Marta Vazquez -Memije, Darryl Devivo, Dr Salvatore Dimauro

Journal:

Annals of Neurology

Year:

1995

Language:

english

File:

PDF, 550 KB

english, 1995

84

Multiple mitochondrial DNA deletions in sporadic inclusion body myositis: A study of 56 patients

F. M. Santorelli, M. Sciacco, K. Tanji, S. Shanske, T. H. Vu, V. Golzi, R. C. Griggs, J. R. Mendell, A. P. Hays, T. E. Bertorini, A. Pestronk, E. Bonilla, Dr S. Dimauro

Journal:

Annals of Neurology

Year:

1996

Language:

english

File:

PDF, 795 KB

english, 1996

85

Maternally inherited encephalopathy associated with a single-base insertion in the mitochondrial tRNATrp gene

F. M. Santorelli, K. Tanji, M. Sano, S. Shanske, M. El-Shahawi, P. Kranz-Eble, S. Dimauro, D. C. De Vivo

Journal:

Annals of Neurology

Year:

1997

Language:

english

File:

PDF, 585 KB

english, 1997

86

The mitochondrial DNA A8344G mutation in leigh syndrome revealed by analysis in paraffin-embedded sections: Revisiting the past

F. M. Santorelli, K. Tanji, S. Shanske, S. Krishna, R. E. Schmidt, R. S. Greenwood, S. DiMauro, Dr. D. C. de Vivo

Journal:

Annals of Neurology

Year:

1998

Language:

english

File:

PDF, 304 KB

english, 1998

87

Omphalocele-exstrophy-imperforate anus-spinal defects (OEIS) in triplet pregnancy after IVF and CVS

Alan L. Shanske, Sumati Pande, Karim Aref, Carlos Vega-Rich, Luc Brion, Sandra Reznik, Ilan E. Timor-Tritsch

Journal:

Birth Defects Research Part A: Clinical and Molecular Teratology

Year:

2003

Language:

english

File:

PDF, 129 KB

english, 2003

88

Retinoic acid-induced inner ear teratogenesis caused by defective Fgf3/Fgf10-dependent Dlx5 signaling

Wei Liu, Giovanni Levi, Alan Shanske, Dorothy A. Frenz

Journal:

Birth Defects Research Part B: Developmental and Reproductive Toxicology

Year:

2008

Language:

english

File:

PDF, 442 KB

english, 2008

89

A new mtDNA mutation in the tRNALeu(UUR) gene associated with maternally inherited cardiomyopathy

G. Silvestri, F. M. Santorelli, S. Shanske, C. B. Whitley, L. A. Schimmenti, S. A. Smith, S. DiMauro

Journal:

Year:

1994

Language:

english

File:

PDF, 897 KB

english, 1994

90

An A-to-C substitution involving the translation initiation codon in a patient with myophosphorylase deficiency (McArdle's disease)

Seiichi Tsujino, Laurence A. Rubin, Sara Shanske, Salvatore DiMauro

Journal:

Year:

1994

Language:

english

File:

PDF, 233 KB

english, 1994

91

Two novel missense mutations (E654K, L396P) in caucasian patients with myophosphorylase deficiency (McArdle's disease)

Seiichi Tsujino, Sara Shanske, Andrea Martinuzzi, Terry Heiman-Patterson, Salvatore DiMauro

Journal:

Year:

1995

Language:

english

File:

PDF, 204 KB

english, 1995

92

Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/digeorge/22q11.2 deletion syndrome patients

Tingwei Guo, Donna McDonald-McGinn, Anna Blonska, Alan Shanske, Anne S. Bassett, Eva Chow, Mark Bowser, Molly Sheridan, Frits Beemer, Koen Devriendt, Ann Swillen, Jeroen Breckpot, Maria C. Digilio, Br

Journal:

Year:

2011

Language:

english

File:

PDF, 611 KB

english, 2011

93

A myeloproliferative disorder with eosinophilia associated with a unique translocation (3;5)

Alan L. Shanske, Andrea Kalman, Hans Grunwald

Journal:

British Journal of Haematology

Year:

1996

Language:

english

File:

PDF, 278 KB

english, 1996

94

First-trimester diagnosis of Bartsocas–Papas syndrome (BPS) by transvaginal ultrasound: case report and review of the literature

Siobhan M. Dolan, Alan L. Shanske, Robert W. Marion, Susan J. Gross

Journal:

Prenatal Diagnosis

Year:

2003

Language:

english

File:

PDF, 259 KB

english, 2003

95

Comparative biochemical studies in fibroblasts from patients with different forms of Leigh syndrome

M. E. Vazquez-Memije, S. Shanske, F. M. Santorelli, P. Kranz-Eble, E. Davidson, D. C. De Vivo, S. DiMauro

Journal:

Journal of Inherited Metabolic Disease

Year:

1996

Language:

english

File:

PDF, 669 KB

english, 1996

96

Infantile cardiomyopathy caused by the T14709C mutation in the mitochondrial tRNA glutamic acid gene

Johan L. K. Van Hove, Cynthia Freehauf, Shelley Miyamoto, Georgirene D. Vladutiu, Jacklyn Pancrudo, Eduardo Bonilla, Mark A. Lovell, Gary W. Mierau, Janet A. Thomas, Sara Shanske

Journal:

European Journal of Pediatrics

Year:

2008

Language:

english

File:

PDF, 346 KB

english, 2008

97

A largeAlu-mediated deletion, identified by PCR, as the molecular basis for glycogen storage disease Type II (GSDII)

M. L. Huie, A. L. Shanske, J. S. Kasper, R. W. Marion, R. Hirschhorn

Journal:

Year:

1999

Language:

english

File:

PDF, 62 KB

english, 1999

98

Maternally Inherited Mitochondrial Cardiomyopathy Associated with a C-to-T Transition at Nucleotide 3303 of Mitochondrial DNA in the tRNALeu(UUR)Gene

Jeffrey D. Goldstein, Sara Shanske, Claudio Bruno, Anthony A. Perszyk

Journal:

Pediatric and Developmental Pathology

Year:

1999

Language:

english

File:

PDF, 913 KB

english, 1999

99

Two novel translocation breakpoints upstream of SOX9 define borders of the proximal and distal breakpoint cluster region in campomelic dysplasia

M Leipoldt, M Erdel, GA Bien-Willner, M Smyk, M Theurl, SA Yatsenko, JR Lupski, AH Lane, AL Shanske, P Stankiewicz, G Scherer

Journal:

Clinical Genetics

Year:

2007

Language:

english

File:

PDF, 637 KB

english, 2007

100

Study of Mitochondrial DNA Mutations in Patients With Migraine With Prolonged Aura

Todd D. Rozen, Sara Shanske, David Otaegui, Jiesheng Lu, William B. Young, Kathy Bradley, Salvatore DiMauro, Stephen D. Silberstein

Journal:

Headache: The Journal of Head and Face Pain

Year:

2004

Language:

english

File:

PDF, 89 KB

english, 2004