Username

Password

Preview

Sign-in free and Explore the Exciting World of BiomedExperts:

Over 1,800,000 Profiles
More than 3,500 Organizations worldwide
State of the Art Network Visualizations

Manage your own Profile
Locate Experts in your Country/Region
Locate Experts in your 1. and 2. Level Network
Connect to Experts Worldwide

NetworkView

Ethylin Jabs

This is a preview profile on BiomedExperts - the first literature-based scientific social network. It brings the right researchers together and allows them to collaborate online. Collexis and Dell provide the BiomedExperts network of +1.8 Million pre-calculated profiles free of charge to researchers worldwide.

Research Profile (preview)

Procedures

Concepts & Ideas

Chemicals & Drugs

Physiology

Disorders

Sign-in to see full Profile

Sign-in to see all Coauthors

Publications

TOP 3
Cheah Felicia S H; Winkler Christoph; Jabs Ethylin Wang; Chong Samuel S
tgfbeta3 regulation of chondrogenesis and osteogenesis in zebrafish is mediated through formation and survival of a subpopulation of the cranial neural crest.
Beaty Terri H; Murray Jeffrey C; Marazita Mary L; Munger Ronald G; Ruczinski Ingo; Hetmanski Jacqueline B; Liang Kung Yee; Wu Tao; Murray Tanda; Fallin M Daniele; Redett Richard A; Raymond Gerald; Schwender Holger; Jin Sheng-Chih; Cooper Margaret E; Dunnwald Martine; Mansilla Maria A; Leslie Elizabeth; Bullard Stephen; Lidral Andrew C; Moreno Lina M; Menezes Renato; Vieira Alexandre R; Petrin Aline; Wilcox Allen J; Lie Rolv T; Jabs Ethylin W; Wu-Chou Yah Huei; Chen Philip K; Wang Hong; Ye Xiaoqian; Huang Shangzhi; Yeow Vincent; Chong Samuel S; Jee Sun Ha; Shi Bing; Christensen Kaare; Melbye Mads; Doheny Kimberly F; Pugh Elizabeth W; Ling Hua; Castilla Eduardo E; Czeizel Andrew E; Ma Lian; Field L Leigh; Brody Lawrence; Pangilinan Faith; Mills James L; Molloy Anne M; Kirke Peadar N; Scott James M; Arcos-Burgos Mauricio; Scott Alan F
A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4.
Ingersoll Roxann G; Hetmanski Jacqueline; Park Ji-Wan; Fallin M Daniele; McIntosh Iain; Wu-Chou Yah-Huei; Chen Philip K; Yeow Vincent; Chong Samuel S; Cheah Felicia; Sull Jae Woong; Jee Sun Ha; Wang Hong; Wu Tao; Murray Tanda; Huang Shangzhi; Ye Xiaoqian; Jabs Ethylin Wang; Redett Richard; Raymond Gerald; Scott Alan F; Beaty Terri H
Association between genes on chromosome 4p16 and non-syndromic oral clefts in four populations.

Sign-in to see all Publications

Sign in free and see...

Visualized networks:

See your personal network in
sophisticated graphical views

GeoTargeted Searches:

Locate experts around the world
and connect with global collaborators

Research Profiles:

See the visualized research activity
of experts around the globe

Sign-in to see more

Geonetwork of Ethylin Jabs (preview)

Cities where this author has publications
Cities where co-authors of this author have publications

Flash Player Required

Sign-in to see more

All Publications

2010: Cheah Felicia S H; Winkler Christoph; Jabs Ethylin Wang; Chong Samuel S
tgfbeta3 regulation of chondrogenesis and osteogenesis in zebrafish is mediated through formation and survival of a subpopulation of the cranial neural crest.
Mechanisms of development 2010;127(7-8):329-44.
2010: Beaty Terri H; Murray Jeffrey C; Marazita Mary L; Munger Ronald G; Ruczinski Ingo; Hetmanski Jacqueline B; Liang Kung Yee; Wu Tao; Murray Tanda; Fallin M Daniele; Redett Richard A; Raymond Gerald; Schwender Holger; Jin Sheng-Chih; Cooper Margaret E; Dunnwald Martine; Mansilla Maria A; Leslie Elizabeth; Bullard Stephen; Lidral Andrew C; Moreno Lina M; Menezes Renato; Vieira Alexandre R; Petrin Aline; Wilcox Allen J; Lie Rolv T; Jabs Ethylin W; Wu-Chou Yah Huei; Chen Philip K; Wang Hong; Ye Xiaoqian; Huang Shangzhi; Yeow Vincent; Chong Samuel S; Jee Sun Ha; Shi Bing; Christensen Kaare; Melbye Mads; Doheny Kimberly F; Pugh Elizabeth W; Ling Hua; Castilla Eduardo E; Czeizel Andrew E; Ma Lian; Field L Leigh; Brody Lawrence; Pangilinan Faith; Mills James L; Molloy Anne M; Kirke Peadar N; Scott James M; Arcos-Burgos Mauricio; Scott Alan F
A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4.
Nature genetics 2010;42(6):525-9.
2010: Ingersoll Roxann G; Hetmanski Jacqueline; Park Ji-Wan; Fallin M Daniele; McIntosh Iain; Wu-Chou Yah-Huei; Chen Philip K; Yeow Vincent; Chong Samuel S; Cheah Felicia; Sull Jae Woong; Jee Sun Ha; Wang Hong; Wu Tao; Murray Tanda; Huang Shangzhi; Ye Xiaoqian; Jabs Ethylin Wang; Redett Richard; Raymond Gerald; Scott Alan F; Beaty Terri H
Association between genes on chromosome 4p16 and non-syndromic oral clefts in four populations.
European journal of human genetics : EJHG 2010;18(6):726-32.
2010: Aldridge Kristina; Hill Cheryl A; Austin Jordan R; Percival Christopher; Martinez-Abadias Neus; Neuberger Thomas; Wang Yingli; Jabs Ethylin Wang; Richtsmeier Joan T
Brain phenotypes in two FGFR2 mouse models for Apert syndrome.
Developmental dynamics : an official publication of the American Association of Anatomists 2010;239(3):987-97.
2010: 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; Shendure Jay; Bamshad Michael J
Exome sequencing identifies the cause of a mendelian disorder.
Nature genetics 2010;42(1):30-5.
2010: Vega H; Trainer A H; Gordillo M; Crosier M; Kayserili H; Skovby F; Uzielli M L Giovannucci; Schnur R E; Manouvrier S; Blair E; Hurst J A; Forzano F; Meins M; Simola K O J; Raas-Rothschild A; Hennekam R C M; Jabs E Wang
Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome.
Journal of medical genetics 2010;47(1):30-7.
2010: Wang Yingli; Sun Miao; Uhlhorn Victoria L; Zhou Xueyan; Peter Inga; Martinez-Abadias Neus; Hill Cheryl A; Percival Christopher J; Richtsmeier Joan T; Huso David L; Jabs Ethylin Wang
Activation of p38 MAPK pathway in the skull abnormalities of Apert syndrome Fgfr2(+P253R) mice.
BMC developmental biology 2010;10():22.
2009: Chtchetinin Jana; Gifford Wes D; Li Sichen; Paznekas William A; Jabs Ethylin Wang; Lai Albert
Tyrosine-dependent basolateral targeting of human connexin43-eYFP in Madin-Darby canine kidney cells can be disrupted by the oculodentodigital dysplasia mutation L90V.
The FEBS journal 2009;276(23):6992-7005.
2009: Marcus Carole L; Smith Richard J H; Mankarious Leila A; Arens Raanan; Mitchell Gordon S; Elluru Ravindhra G; Forte Vito; Goudy Steven; Jabs Ethylin W; Kane Alex A; Katz Eliot; Paydarfar David; Pereira Kevin; Reeves Roger H; Richtsmeier Joan T; Ruiz Ramon L; Thach Bradley T; Tunkel David E; Whitsett Jeffrey A; Wootton David; Blaisdell Carol J
Developmental aspects of the upper airway: report from an NHLBI Workshop, March 5-6, 2009.
Proceedings of the American Thoracic Society 2009;6(6):513-20.
2009: Sull Jae Woong; Liang Kung-Yee; Hetmanski Jacqueline B; Wu Tao; Fallin Margaret Daniele; Ingersoll Roxann G; Park Ji Wan; Wu-Chou Yah-Huei; Chen Philip K; Chong Samuel S; Cheah Felicia; Yeow Vincent; Park Beyoung Yun; Jee Sun Ha; Jabs Ethylin Wang; Redett Richard; Scott Alan F; Beaty Terri H
Evidence that TGFA influences risk to cleft lip with/without cleft palate through unconventional genetic mechanisms.
Human genetics 2009;126(3):385-94.
2009: Yoon Song-Ro; Qin Jian; Glaser Rivka L; Jabs Ethylin Wang; Wexler Nancy S; Sokol Rebecca; Arnheim Norman; Calabrese Peter
The ups and downs of mutation frequencies during aging can account for the Apert syndrome paternal age effect.
PLoS genetics 2009;5(7):e1000558.
2009: Yeo Gare Hoon; Cheah Felicia S H; Winkler Christoph; Jabs Ethylin Wang; Venkatesh Byrappa; Chong Samuel S
Phylogenetic and evolutionary relationships and developmental expression patterns of the zebrafish twist gene family.
Development genes and evolution 2009;219(6):289-300.
2009: Sull Jae Woong; Liang Kung-Yee; Hetmanski Jacqueline B; Fallin Margaret Daniele; Ingersoll Roxanne G; Park Jiwan; Wu-Chou Yah-Huei; Chen Philip K; Chong Samuel S; Cheah Felicia; Yeow Vincent; Park Beyoung Yun; Jee Sun Ha; Jabs Ethylin W; Redett Richard; Scott Alan F; Beaty Terri H
Maternal transmission effects of the PAX genes among cleft case-parent trios from four populations.
European journal of human genetics : EJHG 2009;17(6):831-9.
2009: Paznekas William A; Karczeski Barbara; Vermeer Sascha; Lowry R Brian; Delatycki Martin; Laurence Faivre; Koivisto Pasi A; Van Maldergem Lionel; Boyadjiev Simeon A; Bodurtha Joann N; Jabs Ethylin Wang
GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype.
Human mutation 2009;30(5):724-33.
2008: Sull Jae Woong; Liang Kung-Yee; Hetmanski Jacqueline B; Fallin M Daniele; Ingersoll Roxanne G; Park Ji Wan; Wu-Chou Yah-Huei; Chen Philip K; Chong Samuel S; Cheah Felicia; Yeow Vincent; Park Beyoung Yun; Jee Sun Ha; Jabs Ethylin W; Redett Richard; Scott Alan F; Beaty Terri H
Excess maternal transmission of markers in TCOF1 among cleft palate case-parent trios from three populations.
American journal of medical genetics. Part A 2008;146A(18):2327-31.
2008: Sull Jae Woong; Liang Kung-Yee; Hetmanski Jacqueline B; Fallin Margaret Daniele; Ingersoll Roxann G; Park Jiwan; Wu-Chou Yah-Huei; Chen Philip K; Chong Samuel S; Cheah Felicia; Yeow Vincent; Park Beyoung Yun; Jee Sun Ha; Jabs Ethylin Wang; Redett Richard; Jung Euiju; Ruczinski Ingo; Scott Alan F; Beaty Terri H
Differential parental transmission of markers in RUNX2 among cleft case-parent trios from four populations.
Genetic epidemiology 2008;32(6):505-12.
2008: Gordillo Miriam; Vega Hugo; Trainer Alison H; Hou Fajian; Sakai Norio; Luque Ricardo; Kayserili Hülya; Basaran Seher; Skovby Flemming; Hennekam Raoul C M; Uzielli Maria L Giovannucci; Schnur Rhonda E; Manouvrier Sylvie; Chang Susan; Blair Edward; Hurst Jane A; Forzano Francesca; Meins Moritz; Simola Kalle O J; Raas-Rothschild Annick; Schultz Roger A; McDaniel Lisa D; Ozono Keiichi; Inui Koji; Zou Hui; Jabs Ethylin Wang
The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity.
Human molecular genetics 2008;17(14):2172-80.
2008: Yang Fan; Wang Yingli; Zhang Zijun; Hsu Bryan; Jabs Ethylin Wang; Elisseeff Jennifer H
The study of abnormal bone development in the Apert syndrome Fgfr2+/S252W mouse using a 3D hydrogel culture model.
Bone 2008;43(1):55-63.
2007: Yeo Gare-Hoon; Cheah Felicia S H; Jabs Ethylin Wang; Chong Samuel S
Zebrafish twist1 is expressed in craniofacial, vertebral, and renal precursors.
Development genes and evolution 2007;217(11-12):783-9.
2007: Park Ji Wan; McIntosh Iain; Hetmanski Jacqueline B; Jabs Ethylin Wang; Vander Kolk Craig A; Wu-Chou Yah-Huei; Chen Philip K; Chong Samuel S; Yeow Vincent; Jee Sun Ha; Park Beyoung Yun; Fallin M Daniele; Ingersoll Roxann; Scott Alan F; Beaty Terri H
Association between IRF6 and nonsyndromic cleft lip with or without cleft palate in four populations.
Genetics in medicine : official journal of the American College of Medical Genetics 2007;9(4):219-27.
2007: Zhao Xiuli; Sun Miao; Zhao Jin; Leyva J Alfonso; Zhu Hongwen; Yang Wei; Zeng Xuan; Ao Yang; Liu Qing; Liu Guoyang; Lo Wilson H Y; Jabs Ethylin Wang; Amzel L Mario; Shan Xiangnian; Zhang Xue
Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome.
American journal of human genetics 2007;80(2):361-71.
2006: Beaty T H; Hetmanski J B; Fallin M D; Park J W; Sull J W; McIntosh I; Liang K Y; Vanderkolk C A; Redett R J; Boyadjiev S A; Jabs E W; Chong S S; Cheah F S H; Wu-Chou Y H; Chen P K; Chiu Y F; Yeow V; Ng I S L; Cheng J; Huang S; Ye X; Wang H; Ingersoll R; Scott A F
Analysis of candidate genes on chromosome 2 in oral cleft case-parent trios from three populations.
Human genetics 2006;120(4):501-18.
2006: Griffith Andrew J; Yang Yandan; Pryor Shannon P; Park Hong-Joon; Jabs Ethylin Wang; Nadol Joseph B; Russell Laura J; Wasserman Daniel I; Richard Gabriele; Adams Joe C; Merchant Saumil N
Cochleosaccular dysplasia associated with a connexin 26 mutation in keratitis-ichthyosis-deafness syndrome.
The Laryngoscope 2006;116(8):1404-8.
2006: Park J W; Cai J; McIntosh I; Jabs E W; Fallin M D; Ingersoll R; Hetmanski J B; Vekemans M; Attie-Bitach T; Lovett M; Scott A F; Beaty T H
High throughput SNP and expression analyses of candidate genes for non-syndromic oral clefts.
Journal of medical genetics 2006;43(7):598-608.
2006: Wyrobek A J; Eskenazi B; Young S; Arnheim N; Tiemann-Boege I; Jabs E W; Glaser R L; Pearson F S; Evenson D
Advancing age has differential effects on DNA damage, chromatin integrity, gene mutations, and aneuploidies in sperm.
Proceedings of the National Academy of Sciences of the United States of America 2006;103(25):9601-6.
2006: 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 Maria Rita
Mutational screening of FGFR1, CER1, and CDON in a large cohort of trigonocephalic patients.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 2006;43(2):148-51.
2006: Ye Xiaoqian; Song Guangtai; Fan Mingwen; Shi Lisong; Jabs Ethylin Wang; Huang Shangzhi; Guo Ruiqiang; Bian Zhuan
A novel heterozygous deletion in the EVC2 gene causes Weyers acrofacial dysostosis.
Human genetics 2006;119(1-2):199-205.
2006: Lai Albert; Le Dung-Nghi; Paznekas William A; Gifford Wes D; Jabs Ethylin Wang; Charles Andrew C
Oculodentodigital dysplasia connexin43 mutations result in non-functional connexin hemichannels and gap junctions in C6 glioma cells.
Journal of cell science 2006;119(Pt 3):532-41.
2006: Van Maldergem L; Siitonen H A; Jalkh N; Chouery E; De Roy M; Delague V; Muenke M; Jabs E W; Cai J; Wang L L; Plon S E; Fourneau C; Kestilä M; Gillerot Y; Mégarbané A; Verloes A
Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene.
Journal of medical genetics 2006;43(2):148-52.
2006: Frebourg T; Oliveira C; Hochain P; Karam R; Manouvrier S; Graziadio C; Vekemans M; Hartmann A; Baert-Desurmont S; Alexandre C; Lejeune Dumoulin S; Marroni C; Martin C; Castedo S; Lovett M; Winston J; Machado J C; Attié T; Jabs E W; Cai J; Pellerin Ph; Triboulet J P; Scotte M; Le Pessot F; Hedouin A; Carneiro F; Blayau M; Seruca R
Cleft lip/palate and CDH1/E-cadherin mutations in families with hereditary diffuse gastric cancer.
Journal of medical genetics 2006;43(2):138-42.
2005: Cai Juanliang; Jabs Ethylin Wang
A twisted hand: bHLH protein phosphorylation and dimerization regulate limb development.
BioEssays : news and reviews in molecular, cellular and developmental biology 2005;27(11):1102-6.
2005: Wang Yingli; Xiao Ran; Yang Fan; Karim Baktiar O; Iacovelli Anthony J; Cai Juanliang; Lerner Charles P; Richtsmeier Joan T; Leszl Jen M; Hill Cheryl A; Yu Kai; Ornitz David M; Elisseeff Jennifer; Huso David L; Jabs Ethylin Wang
Abnormalities in cartilage and bone development in the Apert syndrome FGFR2(+/S252W) mouse.
Development (Cambridge, England) 2005;132(15):3537-48.
2005: Ben Jin; Jabs Ethylin Wang; Chong Samuel S
Genomic, cDNA and embryonic expression analysis of zebrafish IRF6, the gene mutated in the human oral clefting disorders Van der Woude and popliteal pterygium syndromes.
Gene expression patterns : GEP 2005;5(5):629-38.
2005: Jehee F S; Johnson D; Alonso L G; Cavalcanti D P; de Sá Moreira E; Alberto F L; Kok F; Kim C; Wall S A; Jabs E W; Boyadjiev S A; Wilkie A O M; Passos-Bueno M R
Molecular screening for microdeletions at 9p22-p24 and 11q23-q24 in a large cohort of patients with trigonocephaly.
Clinical genetics 2005;67(6):503-10.
2005: Shibayama Junko; Paznekas William; Seki Akiko; Taffet Steven; Jabs Ethylin Wang; Delmar Mario; Musa Hassan
Functional characterization of connexin43 mutations found in patients with oculodentodigital dysplasia.
Circulation research 2005;96(10):e83-91.
2005: Vega Hugo; Waisfisz Quinten; Gordillo Miriam; Sakai Norio; Yanagihara Itaru; Yamada Minoru; van Gosliga Djoke; Kayserili Hülya; Xu Chengzhe; Ozono Keiichi; Jabs Ethylin Wang; Inui Koji; Joenje Hans
Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion.
Nature genetics 2005;37(5):468-70.
2005: Huang Ningwu; Pandey Amit V; Agrawal Vishal; Reardon William; Lapunzina Pablo D; Mowat David; Jabs Ethylin Wang; Van Vliet Guy; Sack Joseph; Flück Christa E; Miller Walter L
Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis.
American journal of human genetics 2005;76(5):729-49.
2005: Cheah Felicia S H; Jabs Ethylin Wang; Chong Samuel S
Genomic, cDNA, and embryonic expression analysis of zebrafish transforming growth factor beta 3 (tgfbeta3).
Developmental dynamics : an official publication of the American Association of Anatomists 2005;232(4):1021-30.
2005: Cai Juanliang; Ash David; Kotch Lori E; Jabs Ethylin Wang; Attie-Bitach Tania; Auge Joelle; Mattei Geraldine; Etchevers Heather; Vekemans Michel; Korshunova Yulia; Tidwell Rose; Messina David N; Winston Julia B; Lovett Michael
Gene expression in pharyngeal arch 1 during human embryonic development.
Human molecular genetics 2005;14(7):903-12.
2004: Kates Wendy R; Burnette Courtney P; Bessette Brandy A; Folley Bradley S; Strunge Leslie; Jabs Ethylin W; Pearlson Godfrey D
Frontal and caudate alterations in velocardiofacial syndrome (deletion at chromosome 22q11.2).
Journal of child neurology 2004;19(5):337-42.
2004: Shoo Brenda A; McPherson Elizabeth; Jabs Ethylin Wang
Mosaicism of a TCOF1 mutation in an individual clinically unaffected with Treacher Collins syndrome.
American journal of medical genetics. Part A 2004;126A(1):84-8.
2004: Hewitt Chelsee; McCormick Derek; Linden Gerry; Turk Dusan; Stern Igor; Wallace Ian; Southern Louise; Zhang Liqun; Howard Rebecca; Bullon Pedro; Wong Melanie; Widmer Richard; Gaffar Khaled Abdul; Awawdeh Lama; Briggs Jim; Yaghmai Reza; Jabs Ethlin W; Hoeger Peter; Bleck Oliver; Rüdiger Stefan G; Petersilka Gregor; Battino Maurizio; Brett Peter; Hattab Faiez; Al-Hamed Mohamed; Sloan Philip; Toomes Carmel; Dixon Mike; James Jacqueline; Read Andrew P; Thakker Nalin
The role of cathepsin C in Papillon-Lefèvre syndrome, prepubertal periodontitis, and aggressive periodontitis.
Human mutation 2004;23(3):222-8.
2004: 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
Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome.
Nature genetics 2004;36(3):228-30.
2004: Glaser Rivka L; Jabs Ethylin Wang
Dear old dad.
Science of aging knowledge environment : SAGE KE 2004;2004(3):re1.
2003: Cai Juanliang; Goodman Barbara K; Patel Ankita S; Mulliken John B; Van Maldergem Lionel; Hoganson George E; Paznekas William A; Ben-Neriah Ziva; Sheffer Ruth; Cunningham Michael L; Daentl Donna L; Jabs Ethylin Wang
Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening.
Human genetics 2003;114(1):68-76.
2003: Glaser Rivka L; Broman Karl W; Schulman Rebecca L; Eskenazi Brenda; Wyrobek Andrew J; Jabs Ethylin Wang
The paternal-age effect in Apert syndrome is due, in part, to the increased frequency of mutations in sperm.
American journal of human genetics 2003;73(4):939-47.
2003: Splendore Alessandra; Jabs Ethylin Wang; Félix Têmis Maria; Passos-Bueno Maria Rita
Parental origin of mutations in sporadic cases of Treacher Collins syndrome.
European journal of human genetics : EJHG 2003;11(9):718-22.
2003: Cai J; Shoo B A; Sorauf T; Jabs E Wang
A novel mutation in the TWIST gene, implicated in Saethre-Chotzen syndrome, is found in the original case of Robinow-Sorauf syndrome.
Clinical genetics 2003;64(1):79-82.
2003: Boyadjiev Simeon A; Justice Cristina M; Eyaid Wafaa; McKusick Victor A; Lachman Ralph S; Chowdry Arnab B; Jabak Monzer; Zwaan Johan; Wilson Alexander F; Jabs Ethylin Wang
A novel dysmorphic syndrome with open calvarial sutures and sutural cataracts maps to chromosome 14q13-q21.
Human genetics 2003;113(1):1-9.
2003: Hoover-Fong Julie E; Cai J; Cargile C B; Thomas G H; Patel A; Griffin C A; Jabs E W; Hamosh A
Facial dysgenesis: a novel facial syndrome with chromosome 7 deletion p15.1-21.1.
American journal of medical genetics. Part A 2003;117A(1):47-56.
2003: Paznekas William A; Boyadjiev Simeon A; Shapiro Robert E; Daniels Otto; Wollnik Bernd; Keegan Catherine E; Innis Jeffrey W; Dinulos Mary Beth; Christian Cathy; Hannibal Mark C; Jabs Ethylin Wang
Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia.
American journal of human genetics 2003;72(2):408-18.
2002: Cai Jerry; Ash David; Jabs Ethylin Wang
SAGE analysis from 1 microg of total RNA.
Current protocols in cell biology / editorial board, Juan S. Bonifacino ... [et al.] 2002;Chapter 19():Unit 19.4.
2002: Zeiger Joanna S; Beaty Terri H; Hetmanski Jacqueline B; Wang Hong; Scott Alan F; Kasch Laura; Raymond Gerald; Jabs Ethylin W; VanderKolk Craig
Genetic and environmental risk factors for sagittal craniosynostosis.
The Journal of craniofacial surgery 2002;13(5):602-6.
2002: Splendore Alessandra; Passos-Bueno Maria Rita; Jabs Ethylin Wang; Van Maldergem Lionel; Wulfsberg Eric A
TCOF1 mutations excluded from a role in other first and second branchial arch-related disorders.
American journal of medical genetics 2002;111(3):324-7.
2002: Splendore A; Jabs E W; Passos-Bueno M R
Screening of TCOF1 in patients from different populations: confirmation of mutational hot spots and identification of a novel missense mutation that suggests an important functional domain in the protein treacle.
Journal of medical genetics 2002;39(7):493-5.
2002: Kelley Richard I; Kratz Lisa E; Glaser Rivka L; Netzloff Michael L; Wolf Linda Miller; Jabs Ethylin W
Abnormal sterol metabolism in a patient with Antley-Bixler syndrome and ambiguous genitalia.
American journal of medical genetics 2002;110(2):95-102.
2002: Richard Gabriele; Rouan Fatima; Willoughby Colin E; Brown Nkecha; Chung Pil; Ryynänen Markku; Jabs Ethylin Wang; Bale Sherri J; DiGiovanna John J; Uitto Jouni; Russell Laura
Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome.
American journal of human genetics 2002;70(5):1341-8.
2002: Boyadjiev S A; Chowdry A B; Shapiro R E; Paznekas W A; Wandstrat A E; Choi J W; Kasch L; Zhang G; Wollnik B; Burgess C E; Schalling M; Lovett M; Jabs E W
Physical map of the chromosome 6q22 region containing the oculodentodigital dysplasia locus: analysis of thirteen candidate genes and identification of novel ESTs and DNA polymorphisms.
Cytogenetic and genome research 2002;98(1):29-37.
2001: Lowry R B; Jabs E W; Graham G E; Gerritsen J; Fleming J
Syndrome of coronal craniosynostosis, Klippel-Feil anomaly, and sprengel shoulder with and without Pro250Arg mutation in the FGFR3 gene.
American journal of medical genetics 2001;104(2):112-9.
2001: De Baere E; Dixon M J; Small K W; Jabs E W; Leroy B P; Devriendt K; Gillerot Y; Mortier G; Meire F; Van Maldergem L; Courtens W; Hjalgrim H; Huang S; Liebaers I; Van Regemorter N; Touraine P; Praphanphoj V; Verloes A; Udar N; Yellore V; Chalukya M; Yelchits S; De Paepe A; Kuttenn F; Fellous M; Veitia R; Messiaen L
Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype--phenotype correlation.
Human molecular genetics 2001;10(15):1591-600.
2001: Jabs E W
A TWIST in the fate of human osteoblasts identifies signaling molecules involved in skull development.
The Journal of clinical investigation 2001;107(9):1075-7.
2001: Kates W R; Burnette C P; Jabs E W; Rutberg J; Murphy A M; Grados M; Geraghty M; Kaufmann W E; Pearlson G D
Regional cortical white matter reductions in velocardiofacial syndrome: a volumetric MRI analysis.
Biological psychiatry 2001;49(8):677-84.
2001: Okajima K; Paznekas W A; Burstyn T; Jabs E W
Polymorphisms in the Human SNAIL (SNAI1) gene.
Molecular and cellular probes 2001;15(1):53-5.
2001: Schweitzer D N; Graham J M; Lachman R S; Jabs E W; Okajima K; Przylepa K A; Shanske A; Chen K; Neidich J A; Wilcox W R
Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome with acanthosis nigricans due to an Ala391Glu substitution in FGFR3.
American journal of medical genetics 2001;98(1):75-91.
2001: Ingersoll R G; Paznekas W A; Tran A K; Scott A F; Jiang G; Jabs E W
Fibroblast growth factor receptor 2 (FGFR2): genomic sequence and variations.
Cytogenetics and cell genetics 2001;94(3-4):121-6.
2000: Norris R A; Scott K K; Moore C S; Stetten G; Brown C R; Jabs E W; Wulfsberg E A; Yu J; Kern M J
Human PRRX1 and PRRX2 genes: cloning, expression, genomic localization, and exclusion as disease genes for Nager syndrome.
Mammalian genome : official journal of the International Mammalian Genome Society 2000;11(11):1000-5.
2000: Isaac C; Marsh K L; Paznekas W A; Dixon J; Dixon M J; Jabs E W; Meier U T
Characterization of the nucleolar gene product, treacle, in Treacher Collins syndrome.
Molecular biology of the cell 2000;11(9):3061-71.
2000: Krasner A; Wallace L; Thiagalingam A; Jones C; Lengauer C; Minahan L; Ma Y; Kalikin L; Feinberg A P; Jabs E W; Tunnacliffe A; Baylin S B; Ball D W; Nelkin B D
Cloning and chromosomal localization of the human BARX2 homeobox protein gene.
Gene 2000;250(1-2):171-80.
2000: Boyadjiev S A; Jabs E W
Online Mendelian Inheritance in Man (OMIM) as a knowledgebase for human developmental disorders.
Clinical genetics 2000;57(4):253-66.
2000: Glaser R L; Jiang W; Boyadjiev S A; Tran A K; Zachary A A; Van Maldergem L; Johnson D; Walsh S; Oldridge M; Wall S A; Wilkie A O; Jabs E W
Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome.
American journal of human genetics 2000;66(3):768-77.
2000: Boultwood J; Strickson A J; Jabs E W; Cheng J F; Fidler C; Wainscoat J S
Physical mapping of the human ATX1 homologue (HAH1) to the critical region of the 5q- syndrome within 5q32, and immediately adjacent to the SPARC gene.
Human genetics 2000;106(1):127-9.
1999: Ferreira J C; Carter S M; Bernstein P S; Jabs E W; Glickstein J S; Marion R W; Baergen R N; Gross S J
Second-trimester molecular prenatal diagnosis of sporadic Apert syndrome following suspicious ultrasound findings.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 1999;14(6):426-30.
1999: Sigurdardottir S; Goodman B K; Rutberg J; Thomas G H; Jabs E W; Geraghty M T
Clinical, cytogenetic, and fluorescence in situ hybridization findings in two cases of "complete ring" syndrome.
American journal of medical genetics 1999;87(5):384-90.
1999: Paznekas W A; Okajima K; Schertzer M; Wood S; Jabs E W
Genomic organization, expression, and chromosome location of the human SNAIL gene (SNAI1) and a related processed pseudogene (SNAI1P).
Genomics 1999;62(1):42-9.
1999: Okajima K; Robinson L K; Hart M A; Abuelo D N; Cowan L S; Hasegawa T; Maumenee I H; Jabs E W
Ocular anterior chamber dysgenesis in craniosynostosis syndromes with a fibroblast growth factor receptor 2 mutation.
American journal of medical genetics 1999;85(2):160-70.
1999: Bellus G A; Bamshad M J; Przylepa K A; Dorst J; Lee R R; Hurko O; Jabs E W; Curry C J; Wilcox W R; Lachman R S; Rimoin D L; Francomano C A
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.
American journal of medical genetics 1999;85(1):53-65.
1999: Kovach M J; Lin J P; Boyadjiev S; Campbell K; Mazzeo L; Herman K; Rimer L A; Frank W; Llewellyn B; Jabs E W; Gelber D; Kimonis V E
A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness.
American journal of human genetics 1999;64(6):1580-93.
1999: Boyadjiev S A; Jabs E W; LaBuda M; Jamal J E; Torbergsen T; Ptácek L J; Rogers R C; Nyberg-Hansen R; Opjordsmoen S; Zeller C B; Stine O C; Stalker H J; Zori R T; Shapiro R E
Linkage analysis narrows the critical region for oculodentodigital dysplasia to chromosome 6q22-q23.
Genomics 1999;58(1):34-40.
1999: Tavormina P L; Bellus G A; Webster M K; Bamshad M J; Fraley A E; McIntosh I; Szabo J; Jiang W; Jabs E W; Wilcox W R; Wasmuth J J; Donoghue D J; Thompson L M; Francomano C A
A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene.
American journal of human genetics 1999;64(3):722-31.
1999: Oldridge M; Zackai E H; McDonald-McGinn D M; Iseki S; Morriss-Kay G M; Twigg S R; Johnson D; Wall S A; Jiang W; Theda C; Jabs E W; Wilkie A O
De novo alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome.
American journal of human genetics 1999;64(2):446-61.
1999: Passos-Bueno M R; Wilcox W R; Jabs E W; Sertié A L; Alonso L G; Kitoh H
Clinical spectrum of fibroblast growth factor receptor mutations.
Human mutation 1999;14(2):115-25.
1999: MacDonald S M; Paznekas W A; Jabs E W
Chromosomal localization of tumor protein, translationally-controlled 1 (TPT1) encoding the human histamine releasing factor (HRF) to 13q12-->q14.
Cytogenetics and cell genetics 1999;84(1-2):128-9.
1998: Brant S R; Fu Y; Fields C T; Baltazar R; Ravenhill G; Pickles M R; Rohal P M; Mann J; Kirschner B S; Jabs E W; Bayless T M; Hanauer S B; Cho J H
American families with Crohn's disease have strong evidence for linkage to chromosome 16 but not chromosome 12.
Gastroenterology 1998;115(5):1056-61.
1998: Flanagan N; Boyadjiev S A; Harper J; Kyne L; Earley M; Watson R; Jabs E W; Geraghty M T
Familial craniosynostosis, anal anomalies, and porokeratosis: CAP syndrome.
Journal of medical genetics 1998;35(9):763-6.
1998: Cohen M E; Yin M; Paznekas W A; Schertzer M; Wood S; Jabs E W
Human SLUG gene organization, expression, and chromosome map location on 8q.
Genomics 1998;51(3):468-71.
1998: Cho J H; Nicolae D L; Gold L H; Fields C T; LaBuda M C; Rohal P M; Pickles M R; Qin L; Fu Y; Mann J S; Kirschner B S; Jabs E W; Weber J; Hanauer S B; Bayless T M; Brant S R
Identification of novel susceptibility loci for inflammatory bowel disease on chromosomes 1p, 3q, and 4q: evidence for epistasis between 1p and IBD1.
Proceedings of the National Academy of Sciences of the United States of America 1998;95(13):7502-7.
1998: Paznekas W A; Cunningham M L; Howard T D; Korf B R; Lipson M H; Grix A W; Feingold M; Goldberg R; Borochowitz Z; Aleck K; Mulliken J; Yin M; Jabs E W
Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations.
American journal of human genetics 1998;62(6):1370-80.
1998: Graham J M; Braddock S R; Mortier G R; Lachman R; Van Dop C; Jabs E W
Syndrome of coronal craniosynostosis with brachydactyly and carpal/tarsal coalition due to Pro250Arg mutation in FGFR3 gene.
American journal of medical genetics 1998;77(4):322-9.
1998: Jabs E W
Toward understanding the pathogenesis of craniosynostosis through clinical and molecular correlates.
Clinical genetics 1998;53(2):79-86.
1997: Howard T D; Guttmacher A E; McKinnon W; Sharma M; McKusick V A; Jabs E W
Autosomal dominant postaxial polydactyly, nail dystrophy, and dental abnormalities map to chromosome 4p16, in the region containing the Ellis-van Creveld syndrome locus.
American journal of human genetics 1997;61(6):1405-12.
1997: Filkins K; Russo J F; Boehmer S; Camous M; Przylepa K A; Jiang W; Jabs E W
Prenatal ultrasonographic and molecular diagnosis of Apert syndrome.
Prenatal diagnosis 1997;17(11):1081-4.
1997: Boultwood J; Fidler C; Soularue P; Strickson A J; Kostrzewa M; Jaju R J; Cotter F E; Fairweather N; Monaco A P; Müller U; Lovett M; Jabs E W; Auffray C; Wainscoat J S
Novel genes mapping to the critical region of the 5q- syndrome.
Genomics 1997;45(1):88-96.
1997: Paznekas W A; Zhang N; Gridley T; Jabs E W
Mouse TCOF1 is expressed widely, has motifs conserved in nucleolar phosphoproteins, and maps to chromosome 18.
Biochemical and biophysical research communications 1997;238(1):1-6.
1997: Wise C A; Chiang L C; Paznekas W A; Sharma M; Musy M M; Ashley J A; Lovett M; Jabs E W
TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins Syndrome throughout its coding region.
Proceedings of the National Academy of Sciences of the United States of America 1997;94(7):3110-5.
1997: Oldridge M; Lunt P W; Zackai E H; McDonald-McGinn D M; Muenke M; Moloney D M; Twigg S R; Heath J K; Howard T D; Hoganson G; Gagnon D M; Jabs E W; Wilkie A O
Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2.
Human molecular genetics 1997;6(1):137-43.
1997: Howard T D; Paznekas W A; Green E D; Chiang L C; Ma N; Ortiz de Luna R I; Garcia Delgado C; Gonzalez-Ramos M; Kline A D; Jabs E W
Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome.
Nature genetics 1997;15(1):36-41.
1997: Taylor E W; Xu J; Jabs E W; Meyers D A
Linkage analysis of genetic disorders.
Methods in molecular biology (Clifton, N.J.) 1997;68():11-25.
1996: Przylepa K A; Paznekas W; Zhang M; Golabi M; Bias W; Bamshad M J; Carey J C; Hall B D; Stevenson R; Orlow S; Cohen M M; Jabs E W
Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome.
Nature genetics 1996;13(4):492-4.
1996: Kokke F T; Elsawy T; Bengtsson U; Wasmuth J J; Jabs E W; Tse C M; Donowitz M; Brant S R
A NHE3-related pseudogene is on human chromosome 10; the functional gene maps to 5p15.3.
Mammalian genome : official journal of the International Mammalian Genome Society 1996;7(3):235-6.
1996: Meyers G A; Day D; Goldberg R; Daentl D L; Przylepa K A; Abrams L J; Graham J M; Feingold M; Moeschler J B; Rawnsley E; Scott A F; Jabs E W
FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing.
American journal of human genetics 1996;58(3):491-8.
1996: Lewanda A F; Meyers G A; Jabs E W
Craniosynostosis and skeletal dysplasias: fibroblast growth factor receptor defects.
Proceedings of the Association of American Physicians 1996;108(1):19-24.
1995: Meyers G A; Orlow S J; Munro I R; Przylepa K A; Jabs E W
Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans.
Nature genetics 1995;11(4):462-4.
1995: Lewanda A F; Morsey S; Reid C S; Jabs E W
Two craniosynostotic patients with 11q deletions, and review of 48 cases.
American journal of medical genetics 1995;59(2):193-8.
1995: Lee C; Li X; Jabs E W; Court D; Lin C C
Human gamma X satellite DNA: an X chromosome specific centromeric DNA sequence.
Chromosoma 1995;104(2):103-12.
1995: Park W J; Bellus G A; Jabs E W
Mutations in fibroblast growth factor receptors: phenotypic consequences during eukaryotic development.
American journal of human genetics 1995;57(4):748-54.
1995: Park W J; Theda C; Maestri N E; Meyers G A; Fryburg J S; Dufresne C; Cohen M M; Jabs E W
Analysis of phenotypic features and FGFR2 mutations in Apert syndrome.
American journal of human genetics 1995;57(2):321-8.
1995: Park W J; Meyers G A; Li X; Theda C; Day D; Orlow S J; Jones M C; Jabs E W
Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability.
Human molecular genetics 1995;4(7):1229-33.
1995: Li X; Park W J; Pyeritz R E; Jabs E W
Effect on splicing of a silent FGFR2 mutation in Crouzon syndrome.
Nature genetics 1995;9(3):232-3.
1995: Carow C E; Kim E; Hawkins A L; Webb H D; Griffin C A; Jabs E W; Civin C I; Small D
Localization of the human stem cell tyrosine kinase-1 gene (FLT3) to 13q12-->q13.
Cytogenetics and cell genetics 1995;70(3-4):255-7.
1994: Lewanda A F; Jabs E W
Genetics of craniofacial disorders.
Current opinion in pediatrics 1994;6(6):690-7.
1994: Narayanan V; Ripepi B; Jabs E W; Hawkins A; Griffin C; Tennekoon G
Partial structure and mapping of the human myelin P2 protein gene.
Journal of neurochemistry 1994;63(6):2010-3.
1994: Jabs E W; Li X; Scott A F; Meyers G; Chen W; Eccles M; Mao J I; Charnas L R; Jackson C E; Jaye M
Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2.
Nature genetics 1994;8(3):275-9.
1994: Yamaoka L H; Westbrook C A; Speer M C; Gilchrist J M; Jabs E W; Schweins E G; Stajich J M; Gaskell P C; Roses A D; Pericak-Vance M A
Development of a microsatellite genetic map spanning 5q31-q33 and subsequent placement of the LGMD1A locus between D5S178 and IL9.
Neuromuscular disorders : NMD 1994;4(5-6):471-5.
1994: Craig R W; Jabs E W; Zhou P; Kozopas K M; Hawkins A L; Rochelle J M; Seldin M F; Griffin C A
Human and mouse chromosomal mapping of the myeloid cell leukemia-1 gene: MCL1 maps to human chromosome 1q21, a region that is frequently altered in preneoplastic and neoplastic disease.
Genomics 1994;23(2):457-63.
1994: Wechsler D S; Hawkins A L; Li X; Jabs E W; Griffin C A; Dang C V
Localization of the human Mxi1 transcription factor gene (MXI1) to chromosome 10q24-q25.
Genomics 1994;21(3):669-72.
1994: Sutter T R; Tang Y M; Hayes C L; Wo Y Y; Jabs E W; Li X; Yin H; Cody C W; Greenlee W F
Complete cDNA sequence of a human dioxin-inducible mRNA identifies a new gene subfamily of cytochrome P450 that maps to chromosome 2.
The Journal of biological chemistry 1994;269(18):13092-9.
1994: Jabs E W; Thomas P J; Bernstein M; Coss C; Ferreira G C; Pedersen P L
Chromosomal localization of genes required for the terminal steps of oxidative metabolism: alpha and gamma subunits of ATP synthase and the phosphate carrier.
Human genetics 1994;93(5):600-2.
1994: Li X; Wise C A; Le Paslier D; Hawkins A L; Griffin C A; Pittler S J; Lovett M; Jabs E W
A YAC contig of approximately 3 Mb from human chromosome 5q31-->q33.
Genomics 1994;19(3):470-7.
1994: Malo M S; Blanchard B J; Andresen J M; Srivastava K; Chen X N; Li X; Jabs E W; Korenberg J R; Ingram V M
Localization of a putative human brain sodium channel gene (SCN1A) to chromosome band 2q24.
Cytogenetics and cell genetics 1994;67(3):178-86.
1993: Lewanda A F; Cohen M M; Hood J; Morsey S; Walters M; Kennedy J L; Jabs E W
Cytogenetic survey of Apert syndrome. Reevaluation of a translocation (2;9)(p11.2;q34.2) in a patient suggests the breakpoints are not related to the disorder.
American journal of diseases of children (1960) 1993;147(12):1306-8.
1993: Ding C; Li X; Griffin C A; Jabs E W; Hawkins A L; Levine M A
The gene for human phosducin (PDC), a soluble protein that binds G-protein beta gamma dimers, maps to 1q25-q31.1.
Genomics 1993;18(2):457-9.
1993: Jabs E W; Müller U; Li X; Ma L; Luo W; Haworth I S; Klisak I; Sparkes R; Warman M L; Mulliken J B
A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis.
Cell 1993;75(3):443-50.
1993: Jabs E W; Li X; Lovett M; Yamaoka L H; Taylor E; Speer M C; Coss C; Cadle R; Hall B; Brown K
Genetic and physical mapping of the Treacher Collins syndrome locus with respect to loci in the chromosome 5q3 region.
Genomics 1993;18(1):7-13.
1993: Reid C S; McMorrow L E; McDonald-McGinn D M; Grace K J; Ramos F J; Zackai E H; Cohen M M; Jabs E W
Saethre-Chotzen syndrome with familial translocation at chromosome 7p22.
American journal of medical genetics 1993;47(5):637-9.
1993: Percy M E; Dearie T G; Jabs E W; Bauer S J; Chodakowski B; Somerville M J; Lennox A; McLachlan D R; Baldini A; Miller D A
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.
American journal of medical genetics 1993;47(1):14-9.
1993: Moon C; Preston G M; Griffin C A; Jabs E W; Agre P
The human aquaporin-CHIP gene. Structure, organization, and chromosomal localization.
The Journal of biological chemistry 1993;268(21):15772-8.
1993: Arn P H; Mankinen C; Jabs E W
Mild mandibulofacial dysostosis in a child with a deletion of 3p.
American journal of medical genetics 1993;46(5):534-6.
1993: Bowcock A M; Gerken S C; Barnes R I; Shiang R; Jabs E W; Warren A C; Antonarakis S; Retief A E; Vergnaud G; Leppert M
The CEPH consortium linkage map of human chromosome 13.
Genomics 1993;16(2):486-96.
1993: Gregor P; Reeves R H; Jabs E W; Yang X; Dackowski W; Rochelle J M; Brown R H; Haines J L; O'Hara B F; Uhl G R
Chromosomal localization of glutamate receptor genes: relationship to familial amyotrophic lateral sclerosis and other neurological disorders of mice and humans.
Proceedings of the National Academy of Sciences of the United States of America 1993;90(7):3053-7.
1993: Griffin C A; Ding C L; Jabs E W; Hawkins A L; Li X; Levine M A
Human rod cGMP-gated cation channel gene maps to 4p12-->centromere by chromosomal in situ hybridization.
Genomics 1993;16(1):302-3.
1993: Umbricht C B; Erdile L F; Jabs E W; Kelly T J
Cloning, overexpression, and genomic mapping of the 14-kDa subunit of human replication protein A.
The Journal of biological chemistry 1993;268(9):6131-8.
1993: Surratt C K; Persico A M; Yang X D; Edgar S R; Bird G S; Hawkins A L; Griffin C A; Li X; Jabs E W; Uhl G R
A human synaptic vesicle monoamine transporter cDNA predicts posttranslational modifications, reveals chromosome 10 gene localization and identifies TaqI RFLPs.
FEBS letters 1993;318(3):325-30.
1993: Chang-Yeh A; Jabs E W; Li X; Dracopoli N C; Huang R C
The IPP gene is assigned to human chromosome 1p32-1p22.
Genomics 1993;15(1):239-41.
1993: Myers J C; Sun M J; D'Ippolito J A; Jabs E W; Neilson E G; Dion A S
Human cDNA clones transcribed from an unusually high-molecular-weight RNA encode a new collagen chain.
Gene 1993;123(2):211-7.
1993: Vamvakopoulos N C; Griffin C A; Hawkins A L; Lee C; Chrousos G P; Jabs E W
Mapping the intron-containing human hsp90 alpha (HSPCAL4) gene to chromosome band 14q32.
Cytogenetics and cell genetics 1993;64(3-4):224-6.
1993: Jabs E W; Tuck-Muller C M; Anhalt G J; Earnshaw W; Wise R A; Wigley F
Cytogenetic survey in systemic sclerosis: correlation of aneuploidy with the presence of anticentromere antibodies.
Cytogenetics and cell genetics 1993;63(3):169-75.
1992: Cooper L F; Coss C A; Jabs E W
Reevaluation of the origin of a marker chromosome in a patient with 47,XX,r(13)(p11q34), + mar by molecular cytogenetics.
Clinical genetics 1992;42(6):323-5.
1992: Vandenbergh D J; Persico A M; Hawkins A L; Griffin C A; Li X; Jabs E W; Uhl G R
Human dopamine transporter gene (DAT1) maps to chromosome 5p15.3 and displays a VNTR.
Genomics 1992;14(4):1104-6.
1992: Huebner K; Cannizzaro L A; Jabs E W; Kivirikko S; Manzone H; Pihlajaniemi T; Myers J C
Chromosomal assignment of a gene encoding a new collagen type (COL15A1) to 9q21 --> q22.
Genomics 1992;14(2):220-4.
1992: Xiao L; Celano P; Mank A R; Griffin C; Jabs E W; Hawkins A L; Casero R A
Structure of the human spermidine/spermine N1-acetyltransferase gene (exon/intron gene organization and localization to Xp22.1).
Biochemical and biophysical research communications 1992;187(3):1493-502.
1992: Sieburth D; Jabs E W; Warrington J A; Li X; Lasota J; LaForgia S; Kelleher K; Huebner K; Wasmuth J J; Wolf S F
Assignment of genes encoding a unique cytokine (IL12) composed of two unrelated subunits to chromosomes 3 and 5.
Genomics 1992;14(1):59-62.
1992: Holden K R; Jabs E W; Sponseller P D
Roberts/pseudothalidomide syndrome and normal intelligence: approaches to diagnosis and management.
Developmental medicine and child neurology 1992;34(6):534-9.
1992: Li X; Jaye M; Crumley G; Jabs E W
Dinucleotide repeat polymorphism in the human fibroblast growth factor acidic (FGFA) gene on chromosome 5.
Human molecular genetics 1992;1(3):216.
1992: Fechner P Y; Smith K D; Jabs E W; Migeon C J; Berkovitz G D
Partial gonadal dysgenesis in a patient with a marker Y chromosome.
American journal of medical genetics 1992;42(6):807-12.
1992: Stetten G; Blakemore K J; Courter A M; Coss C A; Jabs E W
Prenatal identification of small mosaic markers of different chromosomal origins.
Prenatal diagnosis 1992;12(2):83-91.
1991: Jabs E W; Li X; Coss C A; Taylor E W; Meyers D A; Weber J L
Mapping the Treacher Collins syndrome locus to 5q31.3----q33.3.
Genomics 1991;11(1):193-8.
1991: Jabs E W; Coss C A; Hayflick S J; Whitmore T E; Pauli R M; Kirkpatrick S J; Meyers D A; Goldberg R; Day D W; Rosenbaum K N
Chromosomal deletion 4p15.32----p14 in a Treacher Collins syndrome patient: exclusion of the disease locus from and mapping of anonymous DNA sequences to this region.
Genomics 1991;11(1):188-92.
1991: Jabs E W; Tuck-Muller C M; Cusano R; Rattner J B
Studies of mitotic and centromeric abnormalities in Roberts syndrome: implications for a defect in the mitotic mechanism.
Chromosoma 1991;100(4):251-61.
1991: Joziasse D H; Shaper J H; Jabs E W; Shaper N L
Characterization of an alpha 1----3-galactosyltransferase homologue on human chromosome 12 that is organized as a processed pseudogene.
The Journal of biological chemistry 1991;266(11):6991-8.
1991: Blanché H; Zoghbi H Y; Jabs E W; de Gouyon B; Zunec R; Dausset J; Cann H M
A centromere-based genetic map of the short arm of human chromosome 6.
Genomics 1991;9(3):420-8.
1991: Jabs E W; Warren A C; Taylor E W; Colyer C R; Meyers D A; Antonarakis S E
Alphoid DNA polymorphisms for chromosome 21 can be distinguished from those of chromosome 13 using probes homologous to both.
Genomics 1991;9(1):141-6.
1991: Arn P H; Li X; Smith C; Hsu M; Schwartz D C; Jabs E W
Analysis of DNA restriction fragments greater than 5.7 Mb in size from the centromeric region of human chromosomes.
Mammalian genome : official journal of the International Mammalian Genome Society 1991;1(4):249-54.
1990: Arn P H; Jabs E W
Characterization of human centromeric regions using restriction enzyme banding, alphoid DNA and structural alterations.
Molecular biology & medicine 1990;7(4):371-7.
1989: Jabs E W; Goble C A; Cutting G R
Macromolecular organization of human centromeric regions reveals high-frequency, polymorphic macro DNA repeats.
Proceedings of the National Academy of Sciences of the United States of America 1989;86(1):202-6.
1989: Jabs E W; Tuck-Muller C M; Cusano R; Rattner J B
Centromere separation and aneuploidy in human mitotic mutants: Roberts syndrome.
Progress in clinical and biological research 1989;318():111-8.
1989: Arn P H; Ketabgian A A; Smith C; Schwartz D C; Jabs E W
The macromolecular organization of human centromeric regions.
Progress in clinical and biological research 1989;318():1-8.
1988: Driscoll D J; Jabs E W; Alcorn D; Maumenee I H; Brusilow S W; Valle D
Corneal tyrosine crystals in transient neonatal tyrosinemia.
The Journal of pediatrics 1988;113(1 Pt 1):91-3.
1988: Jabs E W; Carpenter N
Molecular cytogenetic evidence for amplification of chromosome-specific alphoid sequences at enlarged C-bands on chromosome 6.
American journal of human genetics 1988;43(1):69-74.
1988: Youssoufian H; Chance P; Tuck-Muller C M; Jabs E W
Association of a new chromosomal deletion [del(1)(q32q42)] with diaphragmatic hernia: assignment of a human ferritin gene.
Human genetics 1988;78(3):267-70.
1987: Jabs E W; Persico M G
Characterization of human centromeric regions of specific chromosomes by means of alphoid DNA sequences.
American journal of human genetics 1987;41(3):374-90.
1987: Bartholomew D W; Jabs E W; Levin L S; Ribovich R
Single maxillary central incisor and coloboma in hypomelanosis of Ito.
Clinical genetics 1987;31(6):370-3.
1987: Cooper L F; Jabs E W
Aural atresia associated with multiple congenital anomalies and mental retardation: a new syndrome.
The Journal of pediatrics 1987;110(5):747-50.
1986: Van Keuren M L; Watkins P C; Drabkin H A; Jabs E W; Gusella J F; Patterson D
Regional localization of DNA sequences on chromosome 21 using somatic cell hybrids.
American journal of human genetics 1986;38(6):793-804.
1986: Jabs E W; Meyers D A; Bias W B
Linkage studies of polymorphic, repeated DNA sequences in centromeric regions of human chromosomes.
American journal of human genetics 1986;38(3):297-308.
1984: Jabs E W; Wolf S F; Migeon B R
Characterization of a cloned DNA sequence that is present at centromeres of all human autosomes and the X chromosome and shows polymorphic variation.
Proceedings of the National Academy of Sciences of the United States of America 1984;81(15):4884-8.
1984: Jabs E W; Wolf S F; Migeon B R
Characterization of reiterated human DNA with respect to mammalian X chromosome homology.
Somatic cell and molecular genetics 1984;10(1):93-103.
1983: Lavery M A; Green W R; Jabs E W; Luckenbach M W; Cox J L
Ocular histopathology and ultrastructure of Sanfilippo's syndrome, type III-B.
Archives of ophthalmology 1983;101(8):1263-74.
1983: Mules E H; Stamberg J; Jabs E W; Leonard C O
Two different structural abnormalities of chromosome 13 in offspring of chromosomally normal parents with two fragile sites.
Clinical genetics 1983;23(5):380-5.
1983: Nager G T; Stein S A; Dorst J P; Holliday M J; Kennedy D W; Diehn K W; Jabs E W
Sclerosteosis involving the temporal bone: clinical and radiologic aspects.
American journal of otolaryngology 1983;4(1):1-17.
1982: Jabs E W; Stamberg J; Leonard C O
Tetrasomy 21 in an infant with Down syndrome and congenital leukemia.
American journal of medical genetics 1982;12(1):91-5.
1982: Stamberg J; Jabs E W; Elias E
Terminal deletion(4)(q33) in a male infant.
Clinical genetics 1982;21(2):125-9.
1982: Jabs E W; Leonard C O; Phillips J A
New features of the McKusick-Kaufman syndrome.
Birth defects original article series 1982;18(3B):161-6.

Sign-in to see more

Sign-in free and Explore the Exciting World of BiomedExperts:

NetworkView

Ethylin Jabs

Research Profile (preview)

Procedures

Concepts & Ideas

Chemicals & Drugs

Physiology

Disorders

Genes & Molecular Sequences

Anatomy

Living Beings

Network (preview)

Publications

Sign in free and see...

Visualized networks:

GeoTargeted Searches:

Research Profiles:

Geonetwork of Ethylin Jabs (preview)

All Publications