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1

Prenatal ultrasonographic and molecular diagnosis of apert syndrome

Karen Filkins, Joseph F. Russo, Susan Boehmer, Marianne Camous, Kelly A. Przylepa, Wen Jiang, Ethylin Wang Jabs

Journal:

Prenatal Diagnosis

Year:

1997

Language:

english

File:

PDF, 97 KB

english, 1997

2

Mosaicism of a TCOF1 mutation in an individual clinically unaffected with treacher collins syndrome

Brenda A. Shoo, Elizabeth McPherson, Ethylin Wang Jabs

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 157 KB

english, 2004

3

Evidence of gene–environment interaction for the IRF6 gene and maternal multivitamin supplementation in controlling the risk of cleft lip with/without cleft palate

Tao Wu, Kung Yee Liang, Jacqueline B. Hetmanski, Ingo Ruczinski, Margaret Daniele Fallin, Roxann G. Ingersoll, Hong Wang, Shangzhi Huang, Xiaoqian Ye, Yah-Huei Wu-Chou, Philip K. Chen, Ethylin W. Jabs

Journal:

Year:

2010

Language:

english

File:

PDF, 536 KB

english, 2010

4

Cochleosaccular Dysplasia Associated With a Connexin 26 Mutation in Keratitis–Ichthyosis–Deafness Syndrome

Andrew J. Griffith, Yandan Yang, Shannon P. Pryor, Hong-Joon Park, Ethylin Wang Jabs, Joseph B. Nadol Jr, Laura J. Russell, Daniel I. Wasserman, Gabriele Richard, Joe C. Adams, Saumil N. Merchant

Journal:

The Laryngoscope

Year:

2006

Language:

english

File:

PDF, 1.15 MB

english, 2006

5

Physical and Genetic Mapping of a Human Apical Epithelial Na+/H+ Exchanger (NHE3) Isoform to Chromosome 5p15.3

Steven R. Brant, Michael Bernstein, John J. Wasmuth, Eugene W. Taylor, John D. McPherson, Xiang Li, Susan Walker, Jacques Pouyssegur, Mark Donowitz, Chung-Ming Tse, Ethylin Wang Jabs

Journal:

Year:

1993

File:

PDF, 362 KB

1993

6

Syndrome of coronal craniosynostosis with brachydactyly and carpal/tarsal coalition due to Pro250Arg mutation in FGFR3 gene

Graham, John M., Braddock, Stephen R., Mortier, Geert R., Lachman, Ralph, Van Dop, Cornelis, Jabs, Ethylin Wang

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 423 KB

english, 1998

7

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

8

Ocular anterior chamber dysgenesis in craniosynostosis syndromes with a fibroblast growth factor receptor 2 mutation

Okajima, Kazuki, Robinson, Luther K., Hart, Meeghan A., Abuelo, Dianne N., Cowan, Linda S., Hasegawa, Tomoko, Maumenee, Irene H., Jabs, Ethylin Wang

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 417 KB

english, 1999

9

Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome with acanthosis nigricans due to an Ala391Glu substitution in FGFR3

Daniela N. Schweitzer, John M. Graham Jr., Ralph S. Lachman, Ethylin Wang Jabs, Kazuki Okajima, Kelly A. Przylepa, Alan Shanske, Kelly Chen, Julie A. Neidich, William R. Wilcox

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 888 KB

english, 2001

10

Syndrome of coronal craniosynostosis, Klippel-Feil anomaly, and sprengel shoulder with and without Pro250Arg mutation in the FGFR3 gene

R. Brian Lowry, Ethylin Wang Jabs, Gail E. Graham, Jennifer Gerritsen, John Fleming

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 334 KB

english, 2001

11

Abnormal sterol metabolism in a patient with Antley-Bixler syndrome and ambiguous genitalia

Richard I. Kelley, Lisa E. Kratz, Rivka L. Glaser, Michael L. Netzloff, Linda Miller Wolf, Ethylin W. Jabs

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 103 KB

english, 2002

12

TCOF1 mutations excluded from a role in other first and second branchial arch-related disorders

Alessandra Splendore, Maria Rita Passos-Bueno, Ethylin Wang Jabs, Lionel Van Maldergem, Eric A. Wulfsberg

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 45 KB

english, 2002

13

Tetrasomy 21 in an infant with down syndrome and congenital leukemia

Dr. Ethylin Wang Jabs, Judith Stamberg, Claire O. Leonard, John M. Opitz

Journal:

American Journal of Medical Genetics Part A

Year:

1982

Language:

english

File:

PDF, 333 KB

english, 1982

14

Partial gonadal dysgenesis in a patient with a marker Y chromosome

Dr. Patricia Y. Fechner, Kirby D. Smith, Ethylin Wang Jabs, Claude J. Migeon, Gary D. Berkovitz

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 620 KB

english, 1992

15

Mild mandibulofacial dysostosis in a child with a deletion of 3p

Pamela Hawks Arn, Carl Mankinen, Ethylin W. Jabs

Journal:

American Journal of Medical Genetics Part A

Year:

1993

Language:

english

File:

PDF, 276 KB

english, 1993

16

Family with 22-derived marker chromosome and late-onset dementia of the Alzheimer type: II. Further cytogenetic analysis of the marker and characterization of the high-level repeat sequences using fluorescence in situ hybridization

Maire E. Percy, Thomas G. Dearie, Ethylin Wang Jabs, Sharon J. Bauer, Barbara Chodakowski, Martin J. Somerville, Anne Lennox, Donald R. C. McLachlan, Antonio Baldini, Dorothy A. Miller

Journal:

American Journal of Medical Genetics Part A

Year:

1993

Language:

english

File:

PDF, 763 KB

english, 1993

17

Saethre-Chotzen syndrome with familial translocation at chromosome 7p22

Cheryl S. Reid, Lydia E. McMorrow, Donna M. McDonald-McGinn, Kimberly J. Grace, Feliciano J. Ramos, Elaine H. Zackai, M. Michael Cohen Jr., Ethylin Wang Jabs

Journal:

American Journal of Medical Genetics Part A

Year:

1993

Language:

english

File:

PDF, 350 KB

english, 1993

18

Two craniosynostotic patients with 11q deletions, and review of 48 cases

Amy Feldman Lewanda, Susan Morsey, Cheryl S. Reid, Dr. Ethylin Wang Jabs

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 585 KB

english, 1995

19

Genetic basis of potential therapeutic strategies for craniosynostosis

Heather Melville, Yingli Wang, Peter J. Taub, Ethylin Wang Jabs

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 129 KB

english, 2010

20

Associations between periconceptional alcohol consumption and craniosynostosis, omphalocele, and gastroschisis

Sandra Richardson, Marilyn L. Browne, Sonja A. Rasmussen, Charlotte M. Druschel, Lixian Sun, Ethylin Wang Jabs, Paul A. Romitti, the National Birth Defects Prevention Study

Journal:

Birth Defects Research Part A: Clinical and Molecular Teratology

Year:

2011

Language:

english

File:

PDF, 96 KB

english, 2011

21

A twisted hand: bHLH protein phosphorylation and dimerization regulate limb development

Juanliang Cai, Ethylin Wang Jabs

Journal:

Year:

2005

Language:

english

File:

PDF, 86 KB

english, 2005

22

Genomic, cDNA, and embryonic expression analysis of zebrafish transforming growth factor beta 3 (tgfβ3)

Felicia S.H. Cheah, Ethylin Wang Jabs, Samuel S. Chong

Journal:

Developmental Dynamics

Year:

2005

Language:

english

File:

PDF, 578 KB

english, 2005

23

Brain phenotypes in two FGFR2 mouse models for Apert syndrome

Kristina Aldridge, Cheryl A. Hill, Jordan R. Austin, Christopher Percival, Neus Martinez-Abadias, Thomas Neuberger, Yingli Wang, Ethylin Wang Jabs, Joan T. Richtsmeier

Journal:

Developmental Dynamics

Year:

2010

Language:

english

File:

PDF, 646 KB

english, 2010

24

Beyond the closed suture in apert syndrome mouse models: Evidence of primary effects of FGFR2 signaling on facial shape at birth

Neus Martínez-Abadías, Christopher Percival, Kristina Aldridge, Cheryl A. Hill, Timothy Ryan, Satama Sirivunnabood, Yingli Wang, Ethylin Wang Jabs, Joan T. Richtsmeier

Journal:

Developmental Dynamics

Year:

2010

Language:

english

File:

PDF, 4.09 MB

english, 2010

25

Beyond the Closed Suture in Apert Syndrome Mouse Models: Evidence of Primary Effects of FGFR2 Signaling on Facial Shape at Birth

Neus Martínez-Abadías, Christopher Percival, Kristina Aldridge, Cheryl A. Hill, Timothy Ryan, Satama Sirivunnabood, Yingli Wang, Ethylin Wang Jabs, Joan T. Richtsmeier

Journal:

Developmental Dynamics

Year:

2011

File:

PDF, 154 KB

2011

26

Partial Structure and Mapping of the Human Myelin P2 Protein Gene

Vinodh Narayanan, Benedetta Ripepi, Ethylin Wang Jabs, Anita Hawkins, Constance Griffin, Gihan Tennekoon

Journal:

Journal of Neurochemistry

Year:

1994

Language:

english

File:

PDF, 474 KB

english, 1994

27

Activation of p38 MAPK pathway in the skull abnormalities of Apert syndromeFgfr2+P253Rmice

Yingli Wang, Miao Sun, Victoria L Uhlhorn, Xueyan Zhou, Inga Peter, Neus Martinez-Abadias, Cheryl A Hill, Christopher J Percival, Joan T Richtsmeier, David L Huso, Ethylin Wang Jabs

Journal:

BMC Developmental Biology

Year:

2010

Language:

english

File:

PDF, 10.51 MB

english, 2010

28

Prenatal identification of small mosaic markers of different chromosomal origins

Gail Stetten, Karin J. Blakemore, Anne M. Courter, Cathleen A. Coss, Ethylin Wang Jabs

Journal:

Prenatal Diagnosis

Year:

1992

Language:

english

File:

PDF, 633 KB

english, 1992

29

Chromosomal localization of genes required for the terminal steps of oxidative metabolism: α and γ subunits of ATP synthase and the phosphate carrier

Ethylin Wang Jabs, Philip J. Thomas, Michael Bernstein, Cathleen Coss, Gloria C. Ferreira, Peter L. Pedersen

Journal:

Year:

1994

Language:

english

File:

PDF, 424 KB

english, 1994

30

Association of a new chromosomal deletion [del(1)(q32q42)] with diaphragmatic hernia: assignment of a human ferritin gene

Hagop Youssoufian, Philip Chance, Cathy M. Tuck-Muller, Ethylin Wang Jabs

Journal:

Year:

1988

Language:

english

File:

PDF, 464 KB

english, 1988

31

Studies of mitotic and centromeric abnormalities in Roberts syndrome: Implications for a defect in the mitotic mechanism

Ethylin Wang Jabs, Cathy M. Tuck-Muller, Ronald Cusano, J. B. Rattner

Journal:

Year:

1991

Language:

english

File:

PDF, 2.49 MB

english, 1991

32

Analysis of DNA restriction fragments greater than 5.7 Mb in size from the centromeric region of human chromosomes

Pamela H. Arn, Xiang Li, Cynthia Smith, Mei Hsu, David C. Schwartz, Ethylin Wang Jabs

Journal:

Mammalian Genome

Year:

1991

Language:

english

File:

PDF, 1.23 MB

english, 1991

33

Human PRRX1 and PRRX2 genes: cloning, expression, genomic localization, and exclusion as disease genes for Nager syndrome

Russell A. Norris, Karen K. Scott, Clara S. Moore, Gail Stetten, Cuyler R. Brown, Ethylin Wang Jabs, Eric A. Wulfsberg, Jack Yu, Michael J. Kern

Journal:

Mammalian Genome

Year:

2000

Language:

english

File:

PDF, 315 KB

english, 2000

34

Zebrafishtwist1is expressed in craniofacial, vertebral, and renal precursors

Gare-Hoon Yeo, Felicia S. H. Cheah, Ethylin Wang Jabs, Samuel S. Chong

Journal:

Development Genes and Evolution

Year:

2007

Language:

english

File:

PDF, 546 KB

english, 2007

35

Phylogenetic and evolutionary relationships and developmental expression patterns of the zebrafishtwistgene family

Gare Hoon Yeo, Felicia S. H. Cheah, Christoph Winkler, Ethylin Wang Jabs, Byrappa Venkatesh, Samuel S. Chong

Journal:

Development Genes and Evolution

Year:

2009

Language:

english

File:

PDF, 627 KB

english, 2009

36

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:

Year:

2003

Language:

english

File:

PDF, 313 KB

english, 2003

37

Reasons for participating and genetic information needs among racially and ethnically diverse biobank participants: a focus group study

Samantha A. Streicher, Saskia C. Sanderson, Ethylin Wang Jabs, Michael Diefenbach, Meg Smirnoff, Inga Peter, Carol R. Horowitz, Barbara Brenner, Lynne D. Richardson

Journal:

Journal of Community Genetics

Year:

2011

Language:

english

File:

PDF, 183 KB

english, 2011

38

Toward understanding the pathogenesis of craniosynostosis through clinical and molecular correlates

Ethylin Wang Jabs

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 1.85 MB

english, 1998

39

Tyrosine-dependent basolateral targeting of human connexin43–eYFP in Madin–Darby canine kidney cells can be disrupted by the oculodentodigital dysplasia mutation L90V

Jana Chtchetinin, Wes D. Gifford, Sichen Li, William A. Paznekas, Ethylin Wang Jabs, Albert Lai

Journal:

Year:

2009

Language:

english

File:

PDF, 616 KB

english, 2009

40

Exome sequencing identifies the cause of a mendelian disorder

Ng, Sarah B, Buckingham, Kati J, Lee, Choli, Bigham, Abigail W, Tabor, Holly K, Dent, Karin M, Huff, Chad D, Shannon, Paul T, Jabs, Ethylin Wang, Nickerson, Deborah A

Journal:

Nature Genetics

Year:

2009

Language:

english

File:

PDF, 347 KB

english, 2009

41

Mutations in TWIST, a basic helix–loop–helix transcription factor, in Saethre-Chotzen syndrome

Howard, Timothy D., Paznekas, William A., Green, Eric D., Chiang, Lydia C., Ma, Nancy, Luna, Rosa Isela Ortiz De, Delgado, Costanza Garcia, Gonzalez-Ramos, Mario, Kline, Antoine D., Jabs, Ethylin Wang

Journal:

Nature Genetics

Year:

1997

File:

PDF, 844 KB

1997

42

Effect on splicing of a silent FGFR2 mutation in Crouzon syndrome

Li, Xiang, Park, Woo-Jin, Pyeritz, Reed E., Jabs, Ethylin Wang

Journal:

Nature Genetics

Year:

1995

File:

PDF, 351 KB

1995

43

Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2

Jabs, Ethylin Wang, Li, Xiang, Scott, Alan F., Meyers, Gregory, Chen, Wendy, Eccles, Michael, Mao, Jen-i, Charnas, Lawrence R., Jackson, Charles E., Jaye, Michael

Journal:

Nature Genetics

Year:

1994

File:

PDF, 566 KB

1994

44

Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans

Meyers, Gregory A., Orlow, Seth J., Munro, Ian R., Przylepa, Kelly A., Jabs, Ethylin Wang

Journal:

Nature Genetics

Year:

1995

File:

PDF, 446 KB

1995

45

Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome

Flück, Christa E, Tajima, Toshihro, Pandey, Amit V, Arlt, Wiebke, Okuhara, Kouji, Verge, Charles F, Jabs, Ethylin Wang, Mendonça, Berenice B, Fujieda, Kenji, Miller, Walter L

Journal:

Nature Genetics

Year:

2004

Language:

english

File:

PDF, 826 KB

english, 2004

46

Parental origin of mutations in sporadic cases of Treacher Collins syndrome

Splendore, Alessandra, Jabs, Ethylin Wang, Félix, Têmis Maria, Passos-Bueno, Maria Rita

Journal:

European Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 109 KB

english, 2003

47

A novel heterozygous deletion in theEVC2gene causes Weyers acrofacial dysostosis

Xiaoqian Ye, Guangtai Song, Mingwen Fan, Lisong Shi, Ethylin Wang Jabs, Shangzhi Huang, Ruiqiang Guo, Zhuan Bian

Journal:

Year:

2006

Language:

english

File:

PDF, 325 KB

english, 2006

48

Genome wide study of maternal and parent-of-origin effects on the etiology of orofacial clefts

Min Shi, Jeffrey C. Murray, Mary L. Marazita, Ronald G. Munger, Ingo Ruczinski, Jacqueline B. Hetmanski, Tao Wu, Tanda Murray, Richard J. Redett, Allen J. Wilcox, Rolv T. Lie, Ethylin Wang Jabs, Yah H

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 571 KB

english, 2012

49

Attitudes toward prenatal genetic testing for Treacher Collins syndrome among affected individuals and families

Rebecca L. Wu, Cathleen S. Lawson, Ethylin Wang Jabs, Saskia C. Sanderson

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 228 KB

english, 2012

50

Characterization of reiterated human DNA with respect to mammalian X chromosome homology

Ethylin Wang Jabs, Stanley F. Wolf, Barbara R. Migeon

Journal:

Somatic Cell and Molecular Genetics

Year:

1984

Language:

english

File:

PDF, 1.29 MB

english, 1984

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