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1

Bladder exstrophy-epispadias complex

Michael Ludwig, Bonnie Ching, Heiko Reutter, Simeon A. Boyadjiev

Journal:

Birth Defects Research Part A: Clinical and Molecular Teratology

Année:

2009

Langue:

english

Fichier:

PDF, 181 KB

english, 2009

2

Chip-Based Genome-Wide Search for Micro-Aberrations in Patients With the Exstrophy-Epispadias Complex

Markus Draaken, Heiko Reutter, Thomas M. Boemers, Simeon A. Boyadjiev, Per Hoffmann, Markus M. Nöthen, Michael Ludwig

Journal:

Journal of Pediatric Urology

Année:

2009

Langue:

english

Fichier:

PDF, 40 KB

english, 2009

3

Chip-Based Genome-Wide Search for Micro-Aberrations in Patients with the Exstrophy-Epispadias Complex

Markus Draaken, Heiko Reutter, Thomas M. Boemers, Simeon A. Boyadjiev, Per Hoffmann, Markus M. Nöthen, Michael LUDWIG

Journal:

Journal of Pediatric Urology

Année:

2009

Langue:

english

Fichier:

PDF, 59 KB

english, 2009

4

Paternal Origin of FGFR2 Mutations in Sporadic Cases of Crouzon Syndrome and Pfeiffer Syndrome

Rivka L. Glaser, Wen Jiang, Simeon A. Boyadjiev, Alissa K. Tran, Andrea A. Zachary, Lionel Van Maldergem, David Johnson, Sinead Walsh, Michael Oldridge, Steven A. Wall, Andrew O.M. Wilkie, Ethylin Wan

Journal:

The American Journal of Human Genetics

Année:

2000

Langue:

english

Fichier:

PDF, 234 KB

english, 2000

5

Identification and application of polymorphisms flanking the human adenine phosphoribosyltransferase gene

Simeon A. Boyadjiev, Amrik Sahota, Jay A. Tischfield

Journal:

Année:

1996

Langue:

english

Fichier:

PDF, 166 KB

english, 1996

6

A novel MGP mutation in a consanguineous family: Review of the clinical and molecular characteristics of Keutel syndrome

David J. Hur, Gerald V. Raymond, Stephen G. Kahler, Douglas L. Riegert-Johnson, Bernard A. Cohen, Simeon A. Boyadjiev

Journal:

American Journal of Medical Genetics Part A

Année:

2005

Langue:

english

Fichier:

PDF, 202 KB

english, 2005

7

Precision and error of three-dimensional phenotypic measures acquired from 3dMD photogrammetric images

Kristina Aldridge, Simeon A. Boyadjiev, George T. Capone, Valerie B. DeLeon, Joan T. Richtsmeier

Journal:

American Journal of Medical Genetics Part A

Année:

2005

Langue:

english

Fichier:

PDF, 125 KB

english, 2005

8

Response to letter by Arti Nanda et al.

Bernard A. Cohen, Simeon A. Boyadjiev

Journal:

American Journal of Medical Genetics Part A

Année:

2006

Langue:

english

Fichier:

PDF, 56 KB

english, 2006

9

Concordance analyses of twins with bladder exstrophy–epispadias complex suggest genetic etiology

Heiko Reutter, Lihong Qi, John P. Gearhart, Thomas Boemers, Anne-Karoline Ebert, Wolfgang Rösch, Michael Ludwig, Simeon A. Boyadjiev

Journal:

American Journal of Medical Genetics Part A

Année:

2007

Langue:

english

Fichier:

PDF, 105 KB

english, 2007

10

Brain morphology in nonsyndromic unicoronal craniosynostosis

Kristina Aldridge, Alex A. Kane, Jeffrey L. Marsh, Jayesh Panchal, Simeon A. Boyadjiev, Peng Yan, Daniel Govier, Warda Ahmad, Joan T. Richtsmeier

Journal:

The Anatomical Record Advances in Integrative Anatomy and Evolutionary Biology

Année:

2005

Langue:

english

Fichier:

PDF, 250 KB

english, 2005

11

Genome-wide linkage scan for bladder exstrophy-epispadias complex

Michael Ludwig, Franz Rüschendorf, Kathrin Saar, Norbert Hübner, Lothar Siekmann, Simeon A. Boyadjiev, Heiko Reutter

Journal:

Birth Defects Research Part A: Clinical and Molecular Teratology

Année:

2009

Langue:

english

Fichier:

PDF, 202 KB

english, 2009

12

GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype

William A. Paznekas, Barbara Karczeski, Sascha Vermeer, R. Brian Lowry, Martin Delatycki, Faivre Laurence, Pasi A. Koivisto, Lionel Van Maldergem, Simeon A. Boyadjiev, Joann N. Bodurtha, Ethylin Wang

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 248 KB

english, 2009

13

A novel dysmorphic syndrome with open calvarial sutures and sutural cataracts maps to chromosome 14q13-q21

Simeon A. Boyadjiev, Cristina M. Justice, Wafaa Eyaid, Victor A. McKusick, Ralph S. Lachman, Arnab B. Chowdry, Monzer Jabak, Johan Zwaan, Alexander F. Wilson, Ethylin Wang Jabs

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 313 KB

english, 2003

14

Nafion®-Separated Electrode Solutions in Isoelectric Focusing

Cyrill L. Naydenov, Evgeni P. Kirazov, Simeon A. Boyadjiev, Ludmil P. Kirazov, Valentin S. Lozanov, Vanio I. Mitev

Journal:

Chromatographia

Année:

2012

Langue:

english

Fichier:

PDF, 327 KB

english, 2012

15

Clinical and molecular characterization of the bladder exstrophy-epispadias complex: analysis of 232 families

Simeon A. Boyadjiev, Jennifer L. Dodson, Cristi L. Radford, Gerald H. Ashrafi, Terri H. Beaty, Ranjiv I. Mathews, Karl W. Broman, John P. Gearhart

Journal:

BJU International

Année:

2004

Langue:

english

Fichier:

PDF, 166 KB

english, 2004

16

New insights into the relationship between suture closure and craniofacial dysmorphology in sagittal nonsyndromic craniosynostosis

Yann Heuzé, Simeon A. Boyadjiev, Jeffrey L. Marsh, Alex A. Kane, Elijah Cherkez, James E. Boggan, Joan T. Richtsmeier

Journal:

Journal of Anatomy

Année:

2010

Langue:

english

Fichier:

PDF, 617 KB

english, 2010

17

Cranio-lenticulo-sutural dysplasia is caused by a SEC23A mutation leading to abnormal endoplasmic-reticulum-to-Golgi trafficking

Boyadjiev, Simeon A, Fromme, J Christopher, Ben, Jin, Chong, Samuel S, Nauta, Christopher, Hur, David J, Zhang, George, Hamamoto, Susan, Schekman, Randy, Ravazzola, Mariella

Journal:

Nature Genetics

Année:

2006

Langue:

english

Fichier:

PDF, 630 KB

english, 2006

18

Unilateral and bilateral expression of a quantitative trait: asymmetry and symmetry in coronal craniosynostosis

Yann Heuzé, Neus Martínez-Abadías, Jennifer M. Stella, Craig W. Senders, Simeon A. Boyadjiev, Lun-Jou Lo, Joan T. Richtsmeier

Journal:

Journal of Experimental Zoology Part B: Molecular and Developmental Evolution

Année:

2012

Langue:

english

Fichier:

PDF, 6.92 MB

english, 2012

19

Unilateral and bilateral expression of a quantitative trait: asymmetry and symmetry in coronal craniosynostosis

Yann Heuzé, Neus Martínez-Abadías, Jennifer M. Stella, Craig W. Senders, Simeon A. Boyadjiev, Lun-Jou Lo, Joan T. Richtsmeier

Journal:

Journal of Experimental Zoology Part B: Molecular and Developmental Evolution

Année:

2012

Langue:

english

Fichier:

PDF, 506 KB

english, 2012

20

Leucine-rich repeat, immunoglobulin-like and transmembrane domain 3 (LRIT3) is a modulator of FGFR1

Sun-Don Kim, Jia Lie Liu, Tony Roscioli, Michael F. Buckley, Garima Yagnik, Simeon A. Boyadjiev, Jinoh Kim

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 1.01 MB

english, 2012

21

Phenotype Severity in the Bladder Exstrophy-Epispadias Complex: Analysis of Genetic and Nongenetic Contributing Factors in 441 Families from North America and Europe

Heiko Reutter, Simeon A. Boyadjiev, Lisa Gambhir, Anne-Karoline Ebert, Wolfgang H. Rösch, Raimund Stein, Annette Schröder, Thomas M. Boemers, Enrika Bartels, Hannes Vogt, Boris Utsch, Martin Müller, B

Journal:

The Journal of Pediatrics

Année:

2011

Langue:

english

Fichier:

PDF, 153 KB

english, 2011

22

Genetics of Craniosynostosis

Virginia Kimonis, June-Anne Gold, Trevor L. Hoffman, Jayesh Panchal, Simeon A. Boyadjiev

Journal:

Seminars in Pediatric Neurology

Année:

2007

Langue:

english

Fichier:

PDF, 3.07 MB

english, 2007

23

Linkage Analysis Narrows the Critical Region for Oculodentodigital Dysplasia to Chromosome 6q22–q23

Simeon A Boyadjiev, Ethylin Wang Jabs, Michele LaBuda, Joseph E Jamal, Torberg Torbergsen, Louis J Ptáček II, R.Curtis Rogers, Rolf Nyberg-Hansen, Stein Opjordsmoen, Cynthia B Zeller, O.Colin Stine, H

Journal:

Année:

1999

Langue:

english

Fichier:

PDF, 116 KB

english, 1999

24

A reciprocal translocation 46,XY,t(8;9)(p11.2;q13) in a bladder exstrophy patient disrupts CNTNAP3 and presents evidence of a pericentromeric duplication on chromosome 9

Simeon A. Boyadjiev, Sarah T. South, Cristi L. Radford, Ankita Patel, George Zhang, David J. Hur, George H. Thomas, John P. Gearhart, Gail Stetten

Journal:

Année:

2005

Langue:

english

Fichier:

PDF, 389 KB

english, 2005

25

Very Mild Clinical Manifestation of Hunter Syndrome Due to a Novel IDS Mutation

Simeon Boyadjiev, Liga Bivina, Molly McGinniss, Abigail Hata

Journal:

Molecular Genetics and Metabolism

Année:

2012

Langue:

english

Fichier:

PDF, 54 KB

english, 2012

26

Corrigendum to abstract “Very mild clinical manifestation of Hunter syndrome due to a novel IDS mutation” [Molecular Genetics and Metabolism 105/2 (2012) S15–S69]

Simeon Boyadjiev, Liga Bivina, Molly McGinniss, Abigail Hata

Journal:

Molecular Genetics and Metabolism

Année:

2012

Fichier:

PDF, 84 KB

2012

27

A Unique Point Mutation in the PMP22 Gene Is Associated with Charcot-Marie-Tooth Disease and Deafness

Margaret J. Kovach, Jing-Ping Lin, Simeon Boyadjiev, Kathleen Campbell, Larry Mazzeo, Kristin Herman, Lisa A. Rimer, William Frank, Barbara Llewellyn, Ethylin Wang Jabs, David Gelber, Virginia E. Kimo

Journal:

The American Journal of Human Genetics

Année:

1999

Langue:

english

Fichier:

PDF, 2.06 MB

english, 1999

28

Connexin 43 (GJA1) Mutations Cause the Pleiotropic Phenotype of Oculodentodigital Dysplasia

William A. Paznekas, Simeon A. Boyadjiev, Robert E. Shapiro, Otto Daniels, Bernd Wollnik, Catherine E. Keegan, Jeffrey W. Innis, Mary Beth Dinulos, Cathy Christian, Mark C. Hannibal, Ethylin Wang Jabs

Journal:

The American Journal of Human Genetics

Année:

2003

Langue:

english

Fichier:

PDF, 530 KB

english, 2003

29

The Genetic Basis of a Craniofacial Disease Provides Insight into COPII Coat Assembly

J. Christopher Fromme, Mariella Ravazzola, Susan Hamamoto, Mohammed Al-Balwi, Wafaa Eyaid, Simeon A. Boyadjiev, Pierre Cosson, Randy Schekman, Lelio Orci

Journal:

Developmental Cell

Année:

2007

Langue:

english

Fichier:

PDF, 2.19 MB

english, 2007

30

Familial incidence and associated symptoms in a population of individuals with nonsyndromic craniosynostosis

Greenwood, Jaclyn, Flodman, Pamela, Osann, Kathryn, Boyadjiev, Simeon A., Kimonis, Virginia

Journal:

Genetics in Medicine

Année:

2014

Langue:

english

Fichier:

PDF, 332 KB

english, 2014

31

Mucopolysaccharidosis type II (MPS II): case report of three affected siblings

Bivina, Liga, Boyadjiev, Simeon A.

Journal:

Molecular Genetics and Metabolism

Année:

2014

Langue:

english

Fichier:

PDF, 45 KB

english, 2014

32

Effect of Sebelipase Alfa After 90 Weeks in Adults with Lysosomal Acid Lipase Deficiency

Tripuraneni, Radhika, Whitley, Chester B., Valayannopoulos, Vassili, Malinova, Vera, Sharma, Reena, Bourdon, Chris, Boyadjiev, Simeon, Kessler, Bruce, Eckert, Stephen, Quinn, Anthony G.

Journal:

Journal of Clinical Lipidology

Année:

2014

Langue:

english

Fichier:

PDF, 608 KB

english, 2014

33

Long-term clinical effect and safety of sebelipase alfa in adults with lysosomal acid lipase deficiency

Whitley, Chester B., Valayannopoulos, Vassili, Malinová, Věra, Sharma, Reena, Bourdon, Chris, Boyadjiev, Simeon A., Kessler, Bruce, Twelves, Christopher, Tripuraneni, Radhika, Eckert, Stephen, Schneid

Journal:

Molecular Genetics and Metabolism

Année:

2014

Langue:

english

Fichier:

PDF, 68 KB

english, 2014

34

Umbilical cord blood transplantation in Hurler syndrome using busulfan, fludarabine, clofarabine, rATG conditioning regimen

Boyadjiev Boyd, Simeon A., Dvorak, Christopher C., Bivina, Liga, Wahlstrom, Justin, Horn, Biljana, Bailey-Olson, Mara, Cowan, Morton J.

Journal:

Molecular Genetics and Metabolism

Année:

2014

Langue:

english

Fichier:

PDF, 45 KB

english, 2014

35

Long term safety and clinical activity of SBC-102, a recombinant human lysosomal acid lipase (rhLAL), in patients with late onset LAL deficiency

Balwani, Manisha, Malinova, Vera, Sharma, Reena, Valayannopoulos, Vassili, Stock, Eveline O., Boyadjiev, Simeon A., Kessler, Bruce, Deegan, Patrick, Enns, Gregory M., Breen, Catherine, Kane, John P.,

Journal:

Molecular Genetics and Metabolism

Année:

2013

Langue:

english

Fichier:

PDF, 245 KB

english, 2013

36

Quantification of facial skeletal shape variation in fibroblast growth factor receptor-related craniosynostosis syndromes

Heuzé, Yann, Martínez-Abadías, Neus, Stella, Jennifer M., Arnaud, Eric, Collet, Corinne, García Fructuoso, Gemma, Alamar, Mariana, Lo, Lun-Jou, Boyadjiev, Simeon A., Di Rocco, Federico, Richtsmeier, J

Journal:

Birth Defects Research Part A: Clinical and Molecular Teratology

Année:

2014

Langue:

english

Fichier:

PDF, 294 KB

english, 2014

37

Keutel syndrome: Report of two novel MGP mutations and discussion of clinical overlap with arylsulfatase E deficiency and relapsing polychondritis

Weaver, K. Nicole, El Hallek, Moussa, Hopkin, Robert J., Sund, Kristen L., Henrickson, Michael, del Gaudio, Daniela, Yuksel, Adnan, Acar, Gül Ozbilen, Bober, Michael B., Kim, Jinoh, Boyadjiev, Simeon

Journal:

American Journal of Medical Genetics Part A

Année:

2014

Langue:

english

Fichier:

PDF, 622 KB

english, 2014

38

Missense mutation in the adenine phosphoribosyltransferase gene causing 2, 8-dihydroxyadenine urolithiasis

Sahota, Amrik, Chen, Ju, Boyadjiev, Simeon A., Gault, M.Henry, Tischfield, Jay A.

Journal:

Human Molecular Genetics

Année:

1994

Langue:

english

Fichier:

PDF, 1.87 MB

english, 1994

39

Mutational Screening of FGFR1 , CER1 , and CDON in a Large Cohort of Trigonocephalic Patients

Jehee, Fernanda Sarquis, Alonso, Luis G., Cavalcanti, Denise P., Kim, Chong, Wall, Steven A., Mulliken, John B., Sun, Miao, Jabs, Ethylin Wang, Boyadjiev, Simeon A., Wilkie, Andrew O. M., Passos-Bueno

Journal:

The Cleft Palate-Craniofacial Journal

Année:

2006

Langue:

english

Fichier:

PDF, 30 KB

english, 2006

40

MAPK/ERK Signaling Pathway Analysis in Primary Osteoblasts From Patients With Nonsyndromic Sagittal Craniosynostosis

Kim, Sun-Don, Yagnik, Garima, Cunningham, Michael L., Kim, Jinoh, Boyadjiev, Simeon A.

Journal:

The Cleft Palate-Craniofacial Journal

Année:

2014

Langue:

english

Fichier:

PDF, 181 KB

english, 2014

41

Genetic Predisposition to Natural Rubber Latex Allergy Differs Between Health Care Workers and High-Risk Patients

Monitto, Constance L., Hamilton, Robert G., Levey, Eric, Jedlicka, Anne E., Dziedzic, Amanda, Gearhart, John P., Boyadjiev, Simeon A., Brown, Robert H.

Journal:

Anesthesia & Analgesia

Année:

2010

Langue:

english

Fichier:

PDF, 225 KB

english, 2010

42

Genetic advances in craniosynostosis

Lattanzi, Wanda, Barba, Marta, Di Pietro, Lorena, Boyadjiev, Simeon A.

Journal:

American Journal of Medical Genetics Part A

Année:

2017

Langue:

english

Fichier:

PDF, 789 KB

english, 2017

43

A variant associated with sagittal nonsyndromic craniosynostosis alters the regulatory function of a non-coding element

Justice, Cristina M., Kim, Jinoh, Kim, Sun-Don, Kim, Kyunhgho, Yagnik, Garima, Cuellar, Araceli, Carrington, Blake, Lu, Chung-Ling, Sood, Raman, Boyadjiev, Simeon A., Wilson, Alexander F.

Journal:

American Journal of Medical Genetics Part A

Année:

2017

Langue:

english

Fichier:

PDF, 1.75 MB

english, 2017

44

Cover Image, Volume 173A, Number 11, November 2017

Justice, Cristina M., Kim, Jinoh, Kim, Sun-Don, Kim, Kyunhgho, Yagnik, Garima, Cuellar, Araceli, Carrington, Blake, Lu, Chung-Ling, Sood, Raman, Boyadjiev, Simeon A., Wilson, Alexander F.

Journal:

American Journal of Medical Genetics Part A

Année:

2017

Fichier:

PDF, 923 KB

2017

45

Differential Growth Factor Adsorption to Calvarial Osteoblast-Secreted Extracellular Matrices Instructs Osteoblastic Behavior

Bhat, Archana, Boyadjiev, Simeon A., Senders, Craig W., Leach, J. Kent, Chin, Wei-Chun

Journal:

Année:

2011

Langue:

english

Fichier:

PDF, 1.28 MB

english, 2011

46

Pegunigalsidase alfa, a novel PEGylated enzyme replacement therapy for Fabry disease, provides sustained plasma concentrations and favorable pharmacodynamics: a 1-year Phase 1/2 clinical trial

Schiffmann, Raphael, Goker-Alpan, Ozlem, Holida, Myrl, Giraldo, Pilar, Barisoni, Laura, Colvin, Robert B., Jennette, J. Charles, Maegawa, Gustavo, Boyadjiev, Simeon A., Gonzalez, Derlis, Nicholls, Kat

Journal:

Journal of Inherited Metabolic Disease

Année:

2019

Fichier:

PDF, 1.26 MB

2019