Maria A Musarella: search on Z-Library

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1

Novel mutations of the tyrosinase (TYR) gene in type I oculocutaneous albinism (OCA1)

Richard A. Spritz, Jangsuk Oh, Kazuyoshi Fukai, Stuart A. Holmes, Lingling Ho, David Chitayat, Thomas D. France, Maria A. Musarella, Seth J. Orlow, Rhonda E. Schnur, Richard G. Weleber, Alex V. Levin

Journal:

Year:

1997

Language:

english

File:

PDF, 127 KB

english, 1997

2

Mutations of the P Gene in Oculocutaneous Albinism, Ocular Albinism, and Prader-Willi Syndrome Plus Albinism

Lee, Seung-Taek, Nicholls, Robert D., Bundey, Sarah, Laxova, Renata, Musarella, Maria, Spritz, Richard A.

Journal:

Boston Medical and Surgical Journal

Year:

1994

Language:

english

File:

PDF, 1.70 MB

english, 1994

3

Characterization of the Ocular Phenotype of Duchenne and Becker Muscular Dystrophy

Sigesmund, Dayle A., Weleber, Richard G., Pillers, De-Ann M., Westall, Carol A., Panton, Carole M., Powell, Berkley R., Héon, Elise, Murphey, William H., Musarella, Maria A., Ray, Peter N.

Journal:

Year:

1994

Language:

english

File:

PDF, 2.56 MB

english, 1994

4

Allium Cithaeronis Bogdanović, C. Brullo, Brullo, Giusso, Musarella & Salmeri (Alliaceae), a New Species from Greece

Bogdanović, Sandro, Brullo, Cristian, Brullo, Salvatore, Galdo, Gianpietro Giusso Del, Musarella, Carmelo Maria, Salmeri, Cristina

Journal:

Year:

2011

Language:

english

File:

PDF, 265 KB

english, 2011

5

Solanum torvum Sw. (Solanaceae): a new alien species for Europe

Musarella, Carmelo Maria

Journal:

Genetic Resources and Crop Evolution

Year:

2019

Language:

english

File:

PDF, 1.31 MB

english, 2019

6

First African-American child with juvenile neuronal ceroid lipofuscinosis

?nan, Cigdem, Wong, David, Wisniewski, Krystina E., Rose, Arthur L., Musarella, Maria A.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 60 KB

english, 1998

7

Novel mutations of the P gene in type II oculocutaneous albinism (OCA2)

Richard A. Spritz, Seung-Taek Lee, Kazuyoshi Fukai, Karen Brondum-Nielsen, David Chitayat, Mark H. Lipson, Maria A. Musarella, Ada Rosenmann, Richard G. Weleber

Journal:

Year:

1997

Language:

english

File:

PDF, 113 KB

english, 1997

8

A patient with median cleft face anomaly and bilateral goldenhar anomaly

Maria A. Musarella, Ian D. Young, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1986

Language:

english

File:

PDF, 441 KB

english, 1986

9

Linkage studies and mutation analysis of the PDEB gene in 23 families with leber congenital amaurosis

Olaf Riess, Bernhard Weber, Anne Noeremolle, Rafig A. Shaikh, Michael R. Hayden, Maria A. Musarella

Journal:

Year:

1992

Language:

english

File:

PDF, 688 KB

english, 1992

10

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

11

10.1038/947

Bech-Hansen, N. Torben, Naylor, Margaret J., Maybaum, Tracy A., Pearce, William G., Koop, Ben, Fishman, Gerald A., Mets, Marilyn, Musarella, Maria A., Boycott, Kym M.

Journal:

Nature Genetics

Year:

1998

Language:

english

File:

PDF, 176 KB

english, 1998

12

Dystrophin expression in the human retina is required for normal function as defined by electroretinography

Pillers, De-Ann M., Bulman, Dennis E., Weleber, Richard G., Sigesmund, Dayle A., Musarella, Maria A., Powell, Berkley R., Murphey, William H., Westall, Carol, Panton, Carole, Becker, Laurence E.

Journal:

Nature Genetics

Year:

1993

File:

PDF, 592 KB

1993

13

Molecular genetics of macular degeneration

Maria A. Musarella

Journal:

Documenta Ophthalmologica

Year:

2001

Language:

english

File:

PDF, 77 KB

english, 2001

14

Primary angle closure glaucoma and retinitis pigmentosa

Osama Badeeb, Graham Trope, Maria Musarella

Journal:

Acta Ophthalmologica (Blackwell)

Year:

1993

Language:

english

File:

PDF, 384 KB

english, 1993

15

The ocular pathology in Leber's congenital amaurosis

Timothy J Sullivan, J Godfrey Heathcote, Sheila M Brazel, Maria A Musarella

Journal:

Clinical & Experimental Ophthalmology

Year:

1994

Language:

english

File:

PDF, 1.61 MB

english, 1994

16

Gene mapping of ocular diseases

Maria A. Musarella

Journal:

Survey of Ophthalmology

Year:

1992

Language:

english

File:

PDF, 3.42 MB

english, 1992

17

Ocular genetics: current understanding

Ian M MacDonald, Mai Tran, Maria A Musarella

Journal:

Survey of Ophthalmology

Year:

2004

Language:

english

File:

PDF, 823 KB

english, 2004

18

Patient with Bardet-Biedl syndrome presenting with nystagmus at fifteen months of age

Maria A. Musarella

Journal:

Journal of American Association for Pediatric Ophthalmology and Strabismus

Year:

2001

Language:

english

File:

PDF, 90 KB

english, 2001

19

Evidence for Genetic Heterogeneity in X-Linked Congenital Stationary Night Blindness

Kym M. Boycott, William G. Pearce, Maria A. Musarella, Richard G. Weleber, Tracy A. Maybaum, David G. Birch, Yozo Miyake, Rockefeller S.L. Young, N. Torben Bech-Hansen

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 407 KB

english, 1998

20

A Comprehensive Mutation Analysis of RP2 and RPGR in a North American Cohort of Families with X-Linked Retinitis Pigmentosa

Debra K. Breuer, Beverly M. Yashar, Elena Filippova, Suja Hiriyanna, Robert H. Lyons, Alan J. Mears, Bersabell Asaye, Ceren Acar, Raf Vervoort, Alan F. Wright, Maria A. Musarella, Patricia Wheeler, Ia

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 1.13 MB

english, 2002

21

Physical mapping at a potential X-linked retinitis pigmentosa locus (RP3) by pulsed-field gel electrophoresis

Musarella, Maria A., Anson-Cartwright, C.Lynn, McDowell, Cathy, Burghes, Arthur H.M., Coulson, Susan E., Worton, Ronald G., Rommens, Johanna M.

Journal:

Year:

1991

Language:

english

File:

PDF, 2.27 MB

english, 1991

22

Clinical Spectrum of Leber's Congenital Amaurosis in the Second to Fourth Decades of Life

Smith, Dean, Oestreicher, James, Musarella, Maria A.

Journal:

Year:

1990

Language:

english

File:

PDF, 2.76 MB

english, 1990

23

Ocular Involvement in Neuroblastoma: Prognostic Implications

Musarella, Maria A., Chan, Helen S.L., DeBoer, Gerrit, Gallie, Brenda L.

Journal:

Year:

1984

Language:

english

File:

PDF, 1.70 MB

english, 1984

24

Linkage analysis in X-linked ocular albinism

Schnur, Rhonda E., Nussbaum, Robert L., Anson-Cartwright, Lynn, McDowell, Cathy, Worton, Ronald G., Musarella, Maria A.

Journal:

Year:

1991

Language:

english

File:

PDF, 878 KB

english, 1991

25

Partial deletions of a sequence family (“DXS278”) and its physical linkage to steroid sulfatase as detected by pulsed-field gel electrophoresis

Schnur, Rhonda E., Knowlton, Robert G., Musarella, Maria A., Muenke, Maximilian, Nussbaum, Robert L.

Journal:

Year:

1990

Language:

english

File:

PDF, 2.23 MB

english, 1990

26

Response

Musarella, Maria A.

Journal:

Year:

1990

Language:

english

File:

PDF, 139 KB

english, 1990

27

Cloning of the Esterase D Gene: A Polymorphic Gene Probe Closely Linked to the Retinoblastoma Locus on Chromosome 13

Jeremy Squire, Thaddeus P. Dryja, James Dunn, Audrey Goddard, Theo Hofmann, Maria Musarella, Huntington F. Willard, Andrew J. Becker, Brenda L. Gallie and Robert A. Phillips

Journal:

Proceedings of the National Academy of Sciences

Year:

1986

Language:

english

File:

PDF, 1.04 MB

english, 1986

28

Identification of a gene from Xp21 with similarity to the tctex-1 gene of the murine t complex

Roux, Anne-Francolse, Rommens, Johanna, McDowell, Cathy, Anson-Cartwright, Lynn, Bell, Sherllyn, Schappert, Keith, A.Flshman, Gerry, Musarella, Maria

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 3.82 MB

english, 1994

29

The Spectrum of Associated Ocular and Systemic Malformations

Heon, Elise, Barsoum-Homsy, Magda, Cevrette, Line, Jacob, Jean-Louis, Milot, Jean, Polemeno, Robert, Musarella, Maria A.

Journal:

Ophthalmic Genetics

Year:

1992

Language:

english

File:

PDF, 473 KB

english, 1992

30

Dinucleotide repeat polymorphism near the RP3 locus in Xp21 (DXS1110)

Roux, Anne-Françoise, Yuan, Chu Chin, Rommens, Johanna M., Musarella, Maria A.

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 104 KB

english, 1993

31

Mapping of the X-linked recessive retinitis pigmentosa gene

Musarella, Maria A.

Journal:

Ophthalmic Genetics

Year:

1990

Language:

english

File:

PDF, 945 KB

english, 1990

32

Allium Achaium Boiss. (Alliaceae), a Critical Species of Greek Flora

Bogdanovic´, Sandro, Brullo, Cristian, Brullo, Salvatore, Galdo, Gianpietro Giusso del, Maria Musarella, Carmelo, Salmeri, Cristina

Journal:

Year:

2011

Language:

english

File:

PDF, 458 KB

english, 2011

33

Current Concepts in the Treatment of Retinitis Pigmentosa

Musarella, Maria A., MacDonald, Ian M.

Journal:

Journal of Ophthalmology

Year:

2011

Language:

english

File:

PDF, 1.18 MB

english, 2011

34

Similarity analysis between species of the genus Quercus L. (Fagaceae) in southern Italy based on the fractal dimension

Musarella, Carmelo Maria, Cano-Ortiz, Ana, Piñar Fuentes, José Carlos, Navas-Ureña, Juan, Pinto Gomes, Carlos José, Quinto-Canas, Ricardo, Cano, Eusebio, Spampinato, Giovanni

Journal:

Year:

2018

Language:

english

File:

PDF, 1.09 MB

english, 2018

35

Prevalence of methicillin-resistant Staphylococcus aureus (MRSA) carriage and pattern of antibiotic resistance among sheep farmers from Southern Italy

Mascaro, Valentina, Squillace, Lorena, Nobile, Carmelo GA, Papadopoli, Rosa, Bosch, Thijs, Schouls, Leo M, Casalinuovo, Francesco, Musarella, Rosanna, Pavia, Maria

Journal:

Infection and Drug Resistance

Year:

2019

File:

PDF, 553 KB

2019

36

Identification of pmrB mutations as putative mechanism for colistin resistance in A. baumannii strains isolated after in vivo colistin exposure

Marano, Vito, Marascio, Nadia, Pavia, Grazia, Lamberti, Angelo G., Quirino, Angela, Musarella, Rosanna, Casalinuovo, Francesco, Mazzitelli, Maria, Trecarichi, Enrico M., Torti, Carlo, Matera, Giovanni

Journal:

Microbial Pathogenesis

Year:

2020

File:

PDF, 577 KB

2020

37

Endemic Species || Instrumental Methods for Detection of Lipophilic Marine Toxins in Endemic Species from Pacific Austral Fjords

Cano Carmona, Eusebio, Maria Musarella, Carmelo, Cano Ortiz, Ana

Year:

2019

File:

PDF, 3.72 MB

2019

38

Endemic Species || Endemic Plant Species of Bolivia and Their Relationships with Vegetation

Cano Carmona, Eusebio, Maria Musarella, Carmelo, Cano Ortiz, Ana

Year:

2019

File:

PDF, 18.34 MB

2019

39

Presence of Mycobacterium bovis in slaughterhouses and risks for workers

Ciambrone, Lucia, GioffrÃ¨, Angela, Musarella, Rosanna, Samele, Pasquale, Visaggio, Daniela, Pirolo, Mattia, Clausi, Maria Teresa, Di Natale, Rossella, Gherardi, Monica, Spatari, Giovanna, Visca, Paol

Journal:

Preventive Veterinary Medicine

Year:

2020

File:

PDF, 1.60 MB

2020

40

Phytosociological Study, Diversity and Conservation Status of the Cloud Forest in the Dominican Republic

Cano Ortiz, Ana, Musarella, Carmelo Maria, Pinto Gomes, Carlos JosÃ©, Quinto Canas, Ricardo, PiÃ±ar Fuentes, JosÃ© Carlos, Cano, Eusebio

Journal:

Year:

2020

File:

PDF, 1.97 MB

2020

41

Endemic Species || Introductory Chapter: Endemism as a Basic Element for the Conservation of Species and Habitats

Cano Carmona, Eusebio, Maria Musarella, Carmelo, Cano Ortiz, Ana

Year:

2019

File:

PDF, 157 KB

2019

42

Endemic Species || The Genotyping of Glucose 6 Phosphate Dehydrogenase deficiency (G6PD-d) in Malaria Endemic South Central Timor, East Nusa Tenggara, Eastern Indonesia

Cano Carmona, Eusebio, Maria Musarella, Carmelo, Cano Ortiz, Ana

Year:

2019

File:

PDF, 640 KB

2019

43

Endemic Species || Mexican Indigenous Species with Agroecological Uses

Cano Carmona, Eusebio, Maria Musarella, Carmelo, Cano Ortiz, Ana

Year:

2019

File:

PDF, 1.05 MB

2019

44

Three New Alien Taxa for Europe and a Chorological Update on the Alien Vascular Flora of Calabria (Southern Italy)

Laface, Valentina Lucia Astrid, Musarella, Carmelo Maria, Cano Ortiz, Ana, Quinto Canas, Ricardo, CannavÃ², Serafino, Spampinato, Giovanni

Journal:

Year:

2020

File:

PDF, 13.72 MB

2020

45

Exploring Plant-Based Ethnomedicine and Quantitative Ethnopharmacology: Medicinal Plants Utilized by the Population of Jasrota Hill in Western Himalaya

Singh, Bishander, Singh, Bikarma, Kishor, Anand, Singh, Sumit, Bhat, Mudasir Nazir, Surmal, Opender, Musarella, Carmelo Maria

Journal:

Year:

2020

File:

PDF, 2.86 MB

2020

46

Endemic Species || Two Endemic Primatesâ Species in China: Hainan Gibbon and Guizhou Snub-Nosed Monkey

Cano Carmona, Eusebio, Maria Musarella, Carmelo, Cano Ortiz, Ana

Year:

2019

File:

PDF, 1.52 MB

2019

47

Endemic Species || The Endemism of the Vascular Flora of Mexico Present in Comarca Lagunera, an Agricultural Region in the Chihuahuan Desert

Cano Carmona, Eusebio, Maria Musarella, Carmelo, Cano Ortiz, Ana

Year:

2019

File:

PDF, 1.34 MB

2019

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