Bellus, Gary: search on Z-Library

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1

Analysis of acanthosis nigricans due to a fibroblast growth factor receptor 3 (FGFR3) LYS-650-met mutation

Bellus, Gary A., Whalen, Elizabeth, Norris, David A.

Journal:

Journal of Dermatological Science

Year:

1998

Language:

english

File:

PDF, 184 KB

english, 1998

2

Identification of SPRED1 deletions using RT-PCR, multiplex ligation-dependent probe amplification and quantitative PCR

Emily Spencer, Julia Davis, Fady Mikhail, Chuanhua Fu, Raymon Vijzelaar, Elaine H Zackai, Holly Feret, M Stephen Meyn, Andrea Shugar, Gary Bellus, Kristina Kocsis, Sirpa Kivirikko, Minna Pöyhönen, Lud

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 2.05 MB

english, 2011

3

On the spectrum of limb-body wall complex, exstrophy of the cloaca, and urorectal septum malformation sequence

Cristin A. Heyroth-Griffis, David D. Weaver, Philip Faught, Gary A. Bellus, Wilfredo Torres-Martinez

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 193 KB

english, 2007

4

Male With Mosaicism for Supernumerary Ring X Chromosome

Baker, Peter R., Tsai, Anne Chun-Hui, Springer, Michelle, Swisshelm, Karen, March, Jennifer, Brown, Kathleen, Bellus, Gary

Journal:

Journal of Craniofacial Surgery

Year:

2010

Language:

english

File:

PDF, 598 KB

english, 2010

5

Molecular Characterization of Inherited Medium-Chain Acyl-CoA Dehydrogenase Deficiency

Daniel P. Kelly, Alison J. Whelan, Moira L. Ogden, Ruth Alpers, Zhifang Zhang, Gary Bellus, Niels Gregersen, L. Dorland and Arnold W. Strauss

Journal:

Proceedings of the National Academy of Sciences

Year:

1990

Language:

english

File:

PDF, 1.00 MB

english, 1990

6

The novel duplication HRAS c.186_206dup p.(Glu62_Arg68dup): clinical and functional aspects

Gripp, Karen W., Baker, Laura, Robbins, Katherine M., Stabley, Deborah L., Bellus, Gary A., Kolbe, Verena, Nauth, Theresa, Rosenberger, Georg

Journal:

European Journal of Human Genetics

Year:

2020

File:

PDF, 3.00 MB

2020

7

What Syndrome Is This?

Yong-Kwang Tay, Gary Bellus, William Weston

Journal:

Pediatric Dermatology

Year:

2001

Language:

english

File:

PDF, 129 KB

english, 2001

8

Hypochondroplasia: Molecular Analysis of the Fibroblast Growth Factor Receptor 3 Gene

Gary A. Bellus, Iain Mcintosh, Jinny Szabo, Arthur Aylsworth, Ilkka Kaitila, Clair A. Francomano

Journal:

Annals of the New York Academy of Sciences

Year:

1996

Language:

english

File:

PDF, 408 KB

english, 1996

9

Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes

Bellus, Gary A., Gaudenz, Karin, Zackai, Elaine H., Clarke, Lome A., Szabo, Jinny, Francomano, Clair A., Muenke, Maximilian

Journal:

Nature Genetics

Year:

1996

File:

PDF, 426 KB

1996

10

Immunosuppression and sebaceous tumors: A confirmed diagnosis of Muir-Torre syndrome unmasked by immunosuppressive therapy

Megan N. Landis, Carrie L. Davis, Gary A. Bellus, Stephen E. Wolverton

Journal:

Journal of the American Academy of Dermatology

Year:

2011

Language:

english

File:

PDF, 509 KB

english, 2011

11

Long-term use of high-dose benzoate and dextromethorphan for the treatment of nonketotic hyperglycinemia

Ada Hamosh, Joseph F. Maher, Gary A. Bellus, Sonja A. Rasmussen, Michael V. Johnston

Journal:

The Journal of Pediatrics

Year:

1998

Language:

english

File:

PDF, 128 KB

english, 1998

12

Diagnosis of pili trianguli et canaliculi by frozen section: A rapid and inexpensive method of diagnosis

Krenitsky, Amanda, Dean, Audrey, DiCarlo, Christina, Bellus, Gary, Hossler, Eric

Journal:

Pediatric Dermatology

Year:

2020

Language:

english

File:

PDF, 374 KB

english, 2020

13

Confirmatory linkage of hypochondroplasia to chromosome arm 4p

Dr. Jacqueline T. Hecht, Carlos A. Herrera, Giselle A. Greenhaw, Clair A. Francomano, Gary A. Bellus, Susan H. Blanton

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 187 KB

english, 1995

14

Mesomelic and rhizomelic short stature: The phenotype of combined Leri-Weill dyschondrosteosis and achondroplasia or hypochondroplasia

Judith L. Ross, Gary Bellus, Charles I. Scott Jr., Jack Abboudi, Giedre Grigelioniene, Andrew R. Zinn

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 141 KB

english, 2003

15

Identical twin sisters with Rubinstein–Taybi syndrome associated with Chiari malformations and syrinx

Lea Parsley, Gary Bellus, Michael Handler, Anne Chun-Hui Tsai

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 243 KB

english, 2011

16

Mutations in Fibroblast Growth-Factor Receptor 3 in Sporadic Cases of Achondroplasia Occur Exclusively on the Paternally Derived Chromosome

Douglas J. Wilkin, Jinny K. Szabo, Rhoda Cameron, Shirley Henderson, Gary A. Bellus, Michelle L. Mack, Ilkka Kaitila, John Loughlin, Arnold Munnich, Bryan Sykes, Jacky Bonaventure, Clair A. Francomano

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 601 KB

english, 1998

17

What Syndrome Is This?

Jennifer L. Reichel, William L. Weston, Gary Bellus, Joseph Morelli

Journal:

Pediatric Dermatology

Year:

2001

Language:

english

File:

PDF, 1.41 MB

english, 2001

18

In this Issue

Weston, William L., Bellus, Gary

Journal:

The Journal of Investigative Dermatology

Year:

1998

Language:

english

File:

PDF, 81 KB

english, 1998

19

Exclusion of Candidate Genes and Loci for Multiple Lentigines Syndrome

Pacheco, Theresa R., Oreskovich, Nicole M., Bellus, Gary A., Talbert, Janet, Old, William, Fain, Pamela R.

Journal:

The Journal of Investigative Dermatology

Year:

2002

Language:

english

File:

PDF, 81 KB

english, 2002

20

Current status of mapping studies in achondroplasia

Francomano, C.A., Ortiz de Luna, Rosa I., Hefferon, Timothy W., Bellus, Gary A., Blanton, Susan Halloran, Hecht, Jacqueline T., McIntosh, Iain

Journal:

Year:

1994

Language:

english

File:

PDF, 78 KB

english, 1994

21

The Pleiotropic Effects of Fibroblast Growth Factor Receptors in Mammalian Development.

McIntosh, Iain, A. Bellus, Gary, Wang Jabs, Ethylin

Journal:

Cell Structure and Function

Year:

2000

File:

PDF, 474 KB

2000

22

Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation

Koczkowska, Magdalena, Callens, Tom, Gomes, Alicia, Sharp, Angela, Chen, Yunjia, Hicks, Alesha D., Aylsworth, Arthur S., Azizi, Amedeo A., Basel, Donald G., Bellus, Gary, Bird, Lynne M., Blazo, Maria

Journal:

Genetics in Medicine

Year:

2018

Language:

english

File:

PDF, 158 KB

english, 2018

23

Compound heterozygosity for a frame shift mutation and a likely pathogenic sequence variant in the planar cell polarity-ciliogenesis gene WDPCP in a girl with polysyndactyly, coarctation of the aorta, and tongue hamartomas

Saari, Jonathan, Lovell, Mark A., Yu, Hung-Chun, Bellus, Gary A.

Journal:

American Journal of Medical Genetics Part A

Year:

2015

Language:

english

File:

PDF, 756 KB

english, 2015

24

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation

Koczkowska, Magdalena, Callens, Tom, Gomes, Alicia, Sharp, Angela, Chen, Yunjia, Hicks, Alesha D., Aylsworth, Arthur S., Azizi, Amedeo A., Basel, Donald G., Bellus, Gary, Bird, Lynne M., Blazo, Maria

Journal:

Genetics in Medicine

Year:

2018

Language:

english

File:

PDF, 320 KB

english, 2018

25

A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia

Bellus, Gary A., McIntosh, Iain, Smith, E. Anne, Aylsworth, Arthur S., Kaitila, Ilkka, Horton, William A., Greenhaw, Giselle A., Hecht, Jacqueline T., Francomano, Clair A.

Journal:

Nature Genetics

Year:

1995

File:

PDF, 473 KB

1995

26

A Novel Skeletal Dysplasia with Developmental Delay and Acanthosis Nigricans Is Caused by a Lys650Met Mutation in the Fibroblast Growth Factor Receptor 3 Gene

Patricia L. Tavormina, Gary A. Bellus, Melanie K. Webster, Michael J. Bamshad, Alexander E. Fraley, Iain McIntosh, Jinny Szabo, Wen Jiang, Ethylin W. Jabs, William R. Wilcox, John J. Wasmuth, Daniel J

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 522 KB

english, 1999

27

Distinct Missense Mutations of the FGFR3 Lys650 Codon Modulate Receptor Kinase Activation and the Severity of the Skeletal Dysplasia Phenotype

Gary A. Bellus, Elaine B. Spector, Phyllis W. Speiser, Christine A. Weaver, Anthony T. Garber, Christine R. Bryke, Jamie Israel, Sally S. Rosengren, Melanie K. Webster, Daniel J. Donoghue, Clair A. Fr

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 1.07 MB

english, 2000

28

Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN): Phenotypic analysis of a new skeletal dysplasia caused by a Lys650Met mutation in fibroblast growth factor receptor 3

Bellus, Gary A., Bamshad, Michael J., Przylepa, Kelly A., Dorst, John, Lee, Roland R., Hurko, Orest, Jabs, Ethylin W., Curry, Cynthia J.R., Wilcox, William R., Lachman, Ralph S., Rimoin, David L., Fra

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 843 KB

english, 1999

29

Localization of the achondroplasia gene to the distal 2. 5 Mb of human chromosome 4p

Francomano, Clalr A., de Luna, Rosa I. Ortiz, Hefferon, Timothy W., Bellus, Gary A., Turner, Caria E., Taylor, Eugene, Meyers, Deborah A., Blanton, Susan Halloran, Murray, Jeffrey C., Mclntosh, lain,

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 449 KB

english, 1994

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