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Jacqueline Hecht

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Qiuping Yuan; Brett T Chiquet; Laura Devault; Yukio Nakamura; Eric C Swindell; Matthew L Warman; Jacqueline T Hecht
Craniofacial abnormalities result from knock down of nonsyndromic clefting gene, crispld2, in zebrafish.
W Lu; B S Richards; N Sikka; J E VanderMeer; M Vella; Nadav Ahituv; C Alvarez; C A Bacino; S Blanton; F R Dietz; Jacqueline T Hecht
Studies of TBX4 and chromosome 17q23.1q23.2: an uncommon cause of nonsyndromic clubfoot.
Françoise Coustry; Peiman Liu; Karen L Posey; Joseph L Alcorn; Jacqueline T Hecht
D469del-COMP retention in chondrocytes stimulates caspase-independent necroptosis.

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2012: Qiuping Yuan; Brett T Chiquet; Laura Devault; Yukio Nakamura; Eric C Swindell; Matthew L Warman; Jacqueline T Hecht
Craniofacial abnormalities result from knock down of nonsyndromic clefting gene, crispld2, in zebrafish.
Genesis (New York, N.Y. : 2000) 2012;50(12):871-81.
2012: W Lu; B S Richards; N Sikka; J E VanderMeer; M Vella; Nadav Ahituv; C Alvarez; C A Bacino; S Blanton; F R Dietz; Jacqueline T Hecht
Studies of TBX4 and chromosome 17q23.1q23.2: an uncommon cause of nonsyndromic clubfoot.
American journal of medical genetics. Part A 2012;158A(7):1620-7.
2012: Françoise Coustry; Peiman Liu; Karen L Posey; Joseph L Alcorn; Jacqueline T Hecht
D469del-COMP retention in chondrocytes stimulates caspase-independent necroptosis.
The American journal of pathology 2012;180(2):738-48.
2012: Karen L Posey; Alka C Veerisetty; Joseph L Alcorn; Françoise Coustry; Peiman Liu; Jacqueline T Hecht
Chop (Ddit3) is essential for D469del-COMP retention and cell death in chondrocytes in an inducible transgenic mouse model of pseudoachondroplasia.
The American journal of pathology 2012;180(2):727-37.
2011: Katelyn S Weymouth; Laura E Mitchell; Steve Richards; Christine Alvarez; Michael J Bamshad; Douglas Barnes; Anita E Beck; S Blanton; Matthew B Dobbs; Christina A Gurnett; Jacqueline T Hecht
Variants in genes that encode muscle contractile proteins influence risk for isolated clubfoot.
American journal of medical genetics. Part A 2011;155A(9):2170-9.
2011: Qiuping Yuan; S Blanton; Jacqueline T Hecht
Association of ABCA4 and MAFB with non-syndromic cleft lip with or without cleft palate.
American journal of medical genetics. Part A 2011;155A(6):1469-71.
2011: Qiuping Yuan; S Blanton; Jacqueline T Hecht
Genetic causes of nonsyndromic cleft lip with or without cleft palate.
Advances in oto-rhino-laryngology 2011;70():107-13.
2011: Amy Sommer; S Blanton; Katelyn Weymouth; Christine Alvarez; B Stephen Richards; Douglas Barnes; Jacqueline T Hecht
Smoking, the xenobiotic pathway, and clubfoot.
Birth defects research. Part A, Clinical and molecular teratology 2011;91(1):20-8.
2010: S Shahrukh Hashmi; M Shayne Gallaway; D Kim Waller; Peter H Langlois; Jacqueline T Hecht
Maternal fever during early pregnancy and the risk of oral clefts.
Birth defects research. Part A, Clinical and molecular teratology 2010;88(3):186-94.
2010: Karen L Posey; Peiman Liu; Huiqiu R Wang; Alka C Veerisetty; Joseph L Alcorn; Jacqueline T Hecht
RNAi reduces expression and intracellular retention of mutant cartilage oligomeric matrix protein.
PloS one 2010;5(4):e10302.
2009: Audrey R Ester; Katelyn S Weymouth; Amber Burt; Carol A Wise; Allison Scott; Christina A Gurnett; Matthew B Dobbs; S Blanton; Jacqueline T Hecht
Altered transmission of HOX and apoptotic SNPs identify a potential common pathway for clubfoot.
American journal of medical genetics. Part A 2009;149A(12):2745-52.
2009: Karen L Posey; Alka C Veerisetty; Pieman Liu; Huiqiu R Wang; Brian J Poindexter; Roger Bick; Joseph L Alcorn; Jacqueline T Hecht
An inducible cartilage oligomeric matrix protein mouse model recapitulates human pseudoachondroplasia phenotype.
The American journal of pathology 2009;175(4):1555-63.
2009: Joseph L Alcorn; Thomas M Merritt; Mary C Farach-Carson; Huiqui H Wang; Jacqueline T Hecht
Ribozyme-mediated reduction of wild-type and mutant cartilage oligomeric matrix protein (COMP) mRNA and protein.
RNA (New York, N.Y.) 2009;15(4):686-95.
2009: Brett T Chiquet; Syed S Hashmi; Robin Henry; Amber Burt; John B Mulliken; Samuel Stal; Molly S Bray; S Blanton; Jacqueline T Hecht
Genomic screening identifies novel linkages and provides further evidence for a role of MYH9 in nonsyndromic cleft lip and palate.
European journal of human genetics : EJHG 2009;17(2):195-204.
2008: Karen L Posey; Jacqueline T Hecht
The role of cartilage oligomeric matrix protein (COMP) in skeletal disease.
Current drug targets 2008;9(10):869-77.
2008: Karen L Posey; Kurt Hankenson; Alka C Veerisetty; Paul Bornstein; Jack Lawler; Jacqueline T Hecht
Skeletal abnormalities in mice lacking extracellular matrix proteins, thrombospondin-1, thrombospondin-3, thrombospondin-5, and type IX collagen.
The American journal of pathology 2008;172(6):1664-74.
2008: Karen L Posey; Y Yang; A C Veerisetty; S K Sharan; Jacqueline T Hecht
Model systems for studying skeletal dysplasias caused by TSP-5/COMP mutations.
Cellular and molecular life sciences : CMLS 2008;65(5):687-99.
2008: Tung-Ling L Chen; Karen L Posey; Jacqueline T Hecht; Barbara M Vertel
COMP mutations: domain-dependent relationship between abnormal chondrocyte trafficking and clinical PSACH and MED phenotypes.
Journal of cellular biochemistry 2008;103(3):778-87.
2007: Julia Wynn; Terri King; Michael J Gambello; D Kim Waller; Jacqueline T Hecht
Mortality in achondroplasia study: a 42-year follow-up.
American journal of medical genetics. Part A 2007;143A(21):2502-11.
2007: Jacqueline T Hecht; Audrey Ester; Allison Scott; Carol A Wise; David Iovannisci; Edward J Lammer; Peter H Langlois; S Blanton
NAT2 variation and idiopathic talipes equinovarus (clubfoot).
American journal of medical genetics. Part A 2007;143A(19):2285-91.
2007: Brett T Chiquet; Andrew C Lidral; Samuel Stal; John B Mulliken; Lina M Moreno; Mauricio Arcos-Burgos; Mauricio Arco-Burgos; Consuelo Valencia-Ramirez; S Blanton; Jacqueline T Hecht
CRISPLD2: a novel NSCLP candidate gene.
Human molecular genetics 2007;16(18):2241-8.
2007: Audrey R Ester; Gayle H Tyerman; Carol A Wise; S Blanton; Jacqueline T Hecht
Apoptotic gene analysis in idiopathic talipes equinovarus (clubfoot).
Clinical orthopaedics and related research 2007;462():32-7.
2007: Thomas M Merritt; Roger Bick; Brian J Poindexter; Joseph L Alcorn; Jacqueline T Hecht
Unique matrix structure in the rough endoplasmic reticulum cisternae of pseudoachondroplasia chondrocytes.
The American journal of pathology 2007;170(1):293-300.
2006: Thomas M Merritt; Joseph L Alcorn; Richard Haynes; Jacqueline T Hecht
Expression of mutant cartilage oligomeric matrix protein in human chondrocytes induces the pseudoachondroplasia phenotype.
Journal of orthopaedic research : official publication of the Orthopaedic Research Society 2006;24(4):700-7.
2006: Jacqueline T Hecht; E Helene Sage
Retention of the matricellular protein SPARC in the endoplasmic reticulum of chondrocytes from patients with pseudoachondroplasia.
The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society 2006;54(3):269-74.
2005: Karen L Posey; Sherri Davies; Elise Straka Bales; Richard Haynes; Linda J Sandell; Jacqueline T Hecht
In vivo human Cartilage oligomeric matrix protein (COMP) promoter activity.
Matrix biology : journal of the International Society for Matrix Biology 2005;24(8):539-49.
2005: Amy L Heck; Molly S Bray; Allison Scott; S Blanton; Jacqueline T Hecht
Variation in CASP10 gene is associated with idiopathic talipes equinovarus.
Journal of pediatric orthopedics 2005;25(5):598-602.
2005: S Blanton; Amy Cortez; Samuel Stal; John B Mulliken; Richard Finnell; Jacqueline T Hecht
Variation in IRF6 contributes to nonsyndromic cleft lip and palate.
American journal of medical genetics. Part A 2005;137A(3):259-62.
2005: Jacqueline T Hecht; Elizabeth Hayes; Richard Haynes; William G Cole; Robert J Long; Mary C Farach-Carson; Daniel D Carson
Differentiation-induced loss of heparan sulfate in human exostosis derived chondrocytes.
Differentiation; research in biological diversity 2005;73(5):212-21.
2005: Syed Shahrukh Hashmi; D Kim Waller; Peter H Langlois; Mark A Canfield; Jacqueline T Hecht
Prevalence of nonsyndromic oral clefts in Texas: 1995-1999.
American journal of medical genetics. Part A 2005;134(4):368-72.
2005: Ranjani N Moorthi; Syed Shahrukh Hashmi; Peter Langois; Mark A Canfield; D Kim Waller; Jacqueline T Hecht
Idiopathic talipes equinovarus (ITEV) (clubfeet) in Texas.
American journal of medical genetics. Part A 2005;132(4):376-80.
2005: Jacqueline T Hecht; Elizabeth Hayes; Richard Haynes; William G Cole
COMP mutations, chondrocyte function and cartilage matrix.
Matrix biology : journal of the International Society for Matrix Biology 2005;23(8):525-33.
2004: Jacqueline T Hecht; Outi Makitie; Elizabeth Hayes; Richard Haynes; Miki Susic; Dina Montufar-Solis; P Jackie Duke; William G Cole
Chondrocyte cell death and intracellular distribution of COMP and type IX collagen in the pseudoachondroplasia growth plate.
Journal of orthopaedic research : official publication of the Orthopaedic Research Society 2004;22(4):759-67.
2004: Karen L Posey; Elizabeth Hayes; Richard Haynes; Jacqueline T Hecht
Role of TSP-5/COMP in pseudoachondroplasia.
The international journal of biochemistry & cell biology 2004;36(6):1005-12.
2004: S Blanton; Terry Bertin; Sketa Patel; Samuel Stal; John B Mulliken; Jacqueline T Hecht
Nonsyndromic cleft lip and palate: four chromosomal regions of interest.
American journal of medical genetics. Part A 2004;125A(1):28-37.
2004: S Blanton; Terry Bertin; Maria E Serna; Samuel Stal; John B Mulliken; Jacqueline T Hecht
Association of chromosomal regions 3p21.2, 10p13, and 16p13.3 with nonsyndromic cleft lip and palate.
American journal of medical genetics. Part A 2004;125A(1):23-7.
2003: J Duke; Dina Montufar-Solis; S Underwood; Zahid Lalani; Jacqueline T Hecht
Apoptosis staining in cultured pseudoachondroplasia chondrocytes.
Apoptosis : an international journal on programmed cell death 2003;8(2):191-7.
2003: Diana Ballhausen; Luisa Bonafé; P Terhal; S L Unger; G Bellus; M Classen; B C Hamel; Jürgen Spranger; Bernhard Zabel; Daniel H Cohn; William G Cole; Jacqueline T Hecht; andrea superti-furga
Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W.
Journal of medical genetics 2003;40(1):65-71.
2002: Catherine R Hall; William G Cole; Richard Haynes; Jacqueline T Hecht
Reevaluation of a genetic model for the development of exostosis in hereditary multiple exostosis.
American journal of medical genetics 2002;112(1):1-5.
2002: Jacqueline T Hecht; John B Mulliken; S Blanton
Evidence for a cleft palate only locus on chromosome 4 near MSX1.
American journal of medical genetics 2002;110(4):406-7.
2002: S Blanton; Sketa Patel; Jacqueline T Hecht; John B Mulliken
MTHFR is not a risk factor in the development of isolated nonsyndromic cleft lip and palate.
American journal of medical genetics 2002;110(4):404-5.
2002: Jacqueline T Hecht; Catherine R Hall; Mark B Snuggs; Elizabeth Hayes; Richard Haynes; William G Cole
Heparan sulfate abnormalities in exostosis growth plates.
Bone 2002;31(1):199-204.
2002: Luisa Bonafé; S Blanton; A Scott; S Broussard; Carol A Wise; andrea superti-furga; Jacqueline T Hecht
DTDST mutations are not a frequent cause of idiopathic talipes equinovarus (club foot).
Journal of medical genetics 2002;39(4):e20.
2002: Quinn Kleerekoper; Jacqueline T Hecht; John A Putkey
Disease-causing mutations in cartilage oligomeric matrix protein cause an unstructured Ca2+ binding domain.
The Journal of biological chemistry 2002;277(12):10581-9.
2002: P Jackie Duke; Dina Montufar-Solis; Richard Haynes; Jacqueline T Hecht
Ultrastructural abnormalities in cultured exostosis chondrocytes.
Ultrastructural pathology 2002;26(2):99-106.
2001: S C Cooper; C M Flaitz; D A Johnston; B Lee; Jacqueline T Hecht
A natural history of cleidocranial dysplasia.
American journal of medical genetics 2001;104(1):1-6.
2001: Catherine R Hall; Y Wu; Lisa Shaffer; Jacqueline T Hecht
Familial case of Potocki-Shaffer syndrome associated with microdeletion of EXT2 and ALX4.
Clinical genetics 2001;60(5):356-9.
2001: Jacqueline T Hecht; Elizabeth Hayes; Mark B Snuggs; G Decker; Dina Montufar-Solis; K Doege; F Mwalle; R Poole; J Stevens; P Jackie Duke
Calreticulin, PDI, Grp94 and BiP chaperone proteins are associated with retained COMP in pseudoachondroplasia chondrocytes.
Matrix biology : journal of the International Society for Matrix Biology 2001;20(4):251-62.
2001: Jacqueline T Hecht; S Blanton; S Broussard; A Scott; C Rhoades Hall; J M Milunsky
Evidence for locus heterogeneity in the Camurati-Engelmann (DPD1) Syndrome.
Clinical genetics 2001;59(3):198-200.
2001: M A Bernard; Christiana E Hall; DA Hogue; William G Cole; Allison Scott; Mark B Snuggs; GA Clines; H J Lüdecke; Michael Lovett; W Barry van Winkle; Jacqueline T Hecht
Diminished levels of the putative tumor suppressor proteins EXT1 and EXT2 in exostosis chondrocytes.
Cell motility and the cytoskeleton 2001;48(2):149-62.
2001: Sheila Unger; Jacqueline T Hecht
Pseudoachondroplasia and multiple epiphyseal dysplasia: New etiologic developments.
American journal of medical genetics 2001;106(4):244-50.
2001: M Deere; C Rhoades Hall; K B Gunning; V LeFebvre; A L Ridall; Jacqueline T Hecht
Analysis of the promoter region of human cartilage oligomeric matrix protein (COMP).
Matrix biology : journal of the International Society for Matrix Biology 2001;19(8):783-92.
2000: H Chen; M Deere; Jacqueline T Hecht; J Lawler
Cartilage oligomeric matrix protein is a calcium-binding protein, and a mutation in its type 3 repeats causes conformational changes.
The Journal of biological chemistry 2000;275(34):26538-44.
2000: S Blanton; B S Kolle; Jacqueline T Hecht; J B Mulliken; Eden R Martin
No evidence supporting MTHFR as a risk factor in the development of familial NSCLP.
American journal of medical genetics 2000;92(5):370-1.
2000: J Hou; John A Putkey; Jacqueline T Hecht
Delta 469 mutation in the type 3 repeat calcium binding domain of cartilage oligomeric matrix protein (COMP) disrupts calcium binding.
Cell calcium 2000;27(6):309-14.
2000: S P Vaughn; S Broussard; Catherine R Hall; A Scott; S Blanton; J M Milunsky; Jacqueline T Hecht
Confirmation of the mapping of the Camurati-Englemann locus to 19q13. 2 and refinement to a 3.2-cM region.
Genomics 2000;66(1):119-21.
2000: M A Bernard; DA Hogue; William G Cole; T Sanford; Mark B Snuggs; Dina Montufar-Solis; P Jackie Duke; Daniel D Carson; Allison Scott; W Barry van Winkle; Jacqueline T Hecht
Cytoskeletal abnormalities in chondrocytes with EXT1 and EXT2 mutations.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2000;15(3):442-50.
2000: E F Steinwachs; C Amos; D Johnston; John B Mulliken; Samuel Stal; Jacqueline T Hecht
Nonsyndromic cleft lip and palate is not associated with cancer or other birth defects.
American journal of medical genetics 2000;90(1):17-24.
1999: M Deere; T Sanford; Clair A Francomano; K Daniels; Jacqueline T Hecht
Identification of nine novel mutations in cartilage oligomeric matrix protein in patients with pseudoachondroplasia and multiple epiphyseal dysplasia.
American journal of medical genetics 1999;85(5):486-90.
1999: M Deere; J L Dieguez; S J Yoon; David Hewett-Emmett; ALBERT DE LA CHAPELLE; Jacqueline T Hecht
Genomic characterization of human DSPG3.
Genome research 1999;9(5):449-56.
1998: M Deere; T Sanford; H L Ferguson; K Daniels; Jacqueline T Hecht
Identification of twelve mutations in cartilage oligomeric matrix protein (COMP) in patients with pseudoachondroplasia.
American journal of medical genetics 1998;80(5):510-3.
1998: Jacqueline T Hecht; Dina Montufar-Solis; G Decker; J Lawler; K Daniels; P Jackie Duke
Retention of cartilage oligomeric matrix protein (COMP) and cell death in redifferentiated pseudoachondroplasia chondrocytes.
Matrix biology : journal of the International Society for Matrix Biology 1998;17(8-9):625-33.
1998: Jacqueline T Hecht; M Deere; Elizabeth A Putnam; W Cole; Barbara M Vertel; Hongjiang Chen; J Lawler
Characterization of cartilage oligomeric matrix protein (COMP) in human normal and pseudoachondroplasia musculoskeletal tissues.
Matrix biology : journal of the International Society for Matrix Biology 1998;17(4):269-78.
1998: M Andrews-Casal; D Johnston; J Fletcher; John B Mulliken; Samuel Stal; Jacqueline T Hecht
Cleft lip with or without cleft palate: effect of family history on reproductive planning, surgical timing, and parental stress.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 1998;35(1):52-7.
1997: B M Drinkwater; Jude P Crino; J Garcia; J Ogburn; Jacqueline T Hecht
Recurrent severe infantile cortical hyperostosis (Caffey disease) in siblings.
Prenatal diagnosis 1997;17(8):773-6.
1997: H L Ferguson; M Deere; R Evans; J Rotta; J G Hall; Jacqueline T Hecht
Mosaicism in pseudoachondroplasia.
American journal of medical genetics 1997;70(3):287-91.
1997: Jacqueline T Hecht; DA Hogue; Y Wang; S Blanton; M Wagner; Louise C Strong; W Raskind; Marc F Hansen; D Wells
Hereditary multiple exostoses (EXT): mutational studies of familial EXT1 cases and EXT-associated malignancies.
American journal of human genetics 1997;60(1):80-6.
1996: M Deere; J Johnson; S Garza; W R Harrison; S J Yoon; Frederick F Elder; R Kucherlapati; M Hook; Jacqueline T Hecht
Characterization of human DSPG3, a small dermatan sulfate proteoglycan.
Genomics 1996;38(3):399-404.
1996: D Stickens; GA Clines; D Burbee; P Ramos; S Thomas; D Hogue; Jacqueline T Hecht; Michael Lovett; Glen A Evans
The EXT2 multiple exostoses gene defines a family of putative tumour suppressor genes.
Nature genetics 1996;14(1):25-32.
1996: C Amos; J Stein; J B Mulliken; S Stal; S Malcolm; R Winter; S Blanton; E Seemanova; D L Gasser; Jacqueline T Hecht
Nonsyndromic cleft lip with or without cleft palate: erratum.
American journal of human genetics 1996;59(3):744.
1996: C Amos; D Gasser; Jacqueline T Hecht
Nonsyndromic cleft lip with or without cleft palate: new BCL3 information.
American journal of human genetics 1996;59(3):743-4.
1996: J McKeand; J Rotta; Jacqueline T Hecht
Natural history study of pseudoachondroplasia.
American journal of medical genetics 1996;63(2):406-10.
1996: Oliver Bartsch; Wim Wuyts; Wim Van Hul; Jacqueline T Hecht; P Meinecke; D Hogue; W Werner; B Zabel; Georg Klaus Hinkel; CM Powell; L G Shaffer; Patrick J Willems
Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions in the short arm of chromosome 11.
American journal of human genetics 1996;58(4):734-42.
1996: S Blanton; D Hogue; M Wagner; D Wells; I D Young; Jacqueline T Hecht
Hereditary multiple exostoses: confirmation of linkage to chromosomes 8 and 11.
American journal of medical genetics 1996;62(2):150-9.
1996: S Blanton; E Crowder; S Malcolm; R Winter; D L Gasser; S Stal; J Mulliken; Jacqueline T Hecht
Exclusion of linkage between cleft lip with or without cleft palate and markers on chromosomes 4 and 6.
American journal of human genetics 1996;58(1):239-41.
1995: Wim Wuyts; S Ramlakhan; Wim Van Hul; Jacqueline T Hecht; Ans M W van den Ouweland; Wendy H Raskind; F C Hofstede; Edwin Reyniers; Dan E Wells; Bert B A de Vries
Refinement of the multiple exostoses locus (EXT2) to a 3-cM interval on chromosome 11.
American journal of human genetics 1995;57(2):382-7.
1995: J Stein; J B Mulliken; S Stal; D L Gasser; S Malcolm; R Winter; S Blanton; C Amos; E Seemanova; Jacqueline T Hecht
Nonsyndromic cleft lip with or without cleft palate: evidence of linkage to BCL3 in 17 multigenerational families.
American journal of human genetics 1995;57(2):257-72.
1995: Jacqueline T Hecht; C A Herrera; G A Greenhaw; Clair A Francomano; GA Bellus; S Blanton
Confirmatory linkage of hypochondroplasia to chromosome arm 4p.
American journal of medical genetics 1995;57(3):505-6.
1995: GA Bellus; Iain McIntosh; E A Smith; Arthur S Aylsworth; Ilkka Kaitila; W A Horton; G A Greenhaw; Jacqueline T Hecht; Clair A Francomano
A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia.
Nature genetics 1995;10(3):357-9.
1995: Jacqueline T Hecht; L D Nelson; E Crowder; Y Wang; Frederick F Elder; W R Harrison; Clair A Francomano; CK Prange; GG Lennon; M Deere
Mutations in exon 17B of cartilage oligomeric matrix protein (COMP) cause pseudoachondroplasia.
Nature genetics 1995;10(3):325-9.
1995: Jacqueline T Hecht; D Hogue; L C Strong; M F Hansen; S Blanton; M Wagner
Hereditary multiple exostosis and chondrosarcoma: linkage to chromosome II and loss of heterozygosity for EXT-linked markers on chromosomes II and 8.
American journal of human genetics 1995;56(5):1125-31.
1995: M Deere; S Blanton; C I Scott; L O Langer; Richard M Pauli; Jacqueline T Hecht
Genetic heterogeneity in multiple epiphyseal dysplasia.
American journal of human genetics 1995;56(3):698-704.
1995: GA Bellus; T W Hefferon; R I Ortiz de Luna; Jacqueline T Hecht; W A Horton; M Machado; Ilkka Kaitila; Iain McIntosh; Clair A Francomano
Achondroplasia is defined by recurrent G380R mutations of FGFR3.
American journal of human genetics 1995;56(2):368-73.
1995: P Robbins-Furman; Jacqueline T Hecht; M Rocklin; N Maklad; G Greenhaw; Isabelle A. Wilkins
Prenatal diagnosis of Freeman-Sheldon syndrome (whistling face).
Prenatal diagnosis 1995;15(2):179-82.
1995: C L Wicklund; R M Pauli; D Johnston; Jacqueline T Hecht
Natural history study of hereditary multiple exostoses.
American journal of medical genetics 1995;55(1):43-6.
1994: H Feng; R Sassani; Scott P Bartlett; A Lee; Jacqueline T Hecht; S Malcolm; R M Winter; G M Vintiner; K H Buetow; D L Gasser
Evidence, from family studies, for linkage disequilibrium between TGFA and a gene for nonsyndromic cleft lip with or without cleft palate.
American journal of human genetics 1994;55(5):932-6.
1994: M Ramirez; Jacqueline T Hecht; S Taylor; Isabelle A. Wilkins
Tibial hemimelia syndrome: prenatal diagnosis by real-time ultrasound.
Prenatal diagnosis 1994;14(3):167-71.
1993: Jacqueline T Hecht; Clair A Francomano; Michael D Briggs; M Deere; B Conner; W A Horton; Matthew L Warman; Daniel H Cohn; S Blanton
Linkage of typical pseudoachondroplasia to chromosome 19.
Genomics 1993;18(3):661-6.
1992: Jacqueline T Hecht; S Blanton; Y Wang; Stephen P Daiger; W A Horton; C Rhodes; Y Yamada; Clair A Francomano
Exclusion of human proteoglycan link protein (CRTL1) and type II collagen (COL2A1) genes in pseudoachondroplasia.
American journal of medical genetics 1992;44(4):420-4.
1992: G A Greenhaw; A Hebert; M E Duke-Woodside; I J Butler; Jacqueline T Hecht; J E Cleaver; G H Thomas; W A Horton
Xeroderma pigmentosum and Cockayne syndrome: overlapping clinical and biochemical phenotypes.
American journal of human genetics 1992;50(4):677-89.
1992: W A Horton; Jacqueline T Hecht; O J Hood; R N Marshall; W V Moore; J G Hollowell
Growth hormone therapy in achondroplasia.
American journal of medical genetics 1992;42(5):667-70.
1991: Jacqueline T Hecht; Nora M Thompson; T Weir; L Patchell; W A Horton
Cognitive and motor skills in achondroplastic infants: neurologic and respiratory correlates.
American journal of medical genetics 1991;41(2):208-11.
1991: Jacqueline T Hecht; P Yang; V V Michels; K H Buetow
Complex segregation analysis of nonsyndromic cleft lip and palate.
American journal of human genetics 1991;49(3):674-81.
1990: Jacqueline T Hecht; Ian J Butler
Neurologic morbidity associated with achondroplasia.
Journal of child neurology 1990;5(2):84-97.
1989: Jacqueline T Hecht; J F Annegers; L T Kurland
Epilepsy and clefting disorders: lack of evidence of a familial association.
American journal of medical genetics 1989;33(2):244-7.
1989: Jacqueline T Hecht; W A Horton; C S Reid; R E Pyeritz; R Chakraborty
Growth of the foramen magnum in achondroplasia.
American journal of medical genetics 1989;32(4):528-35.
1988: Jacqueline T Hecht; O J Hood; R J Schwartz; J C Hennessey; B A Bernhardt; W A Horton
Obesity in achondroplasia.
American journal of medical genetics 1988;31(3):597-602.
1988: F W Nelson; Jacqueline T Hecht; W A Horton; Ian J Butler; W D Goldie; M Miner
Neurological basis of respiratory complications in achondroplasia.
Annals of neurology 1988;24(1):89-93.
1987: Jacqueline T Hecht; L L Immken; L F Harris; S Malini; C I Scott
The Nager syndrome.
American journal of medical genetics 1987;27(4):965-9.
1986: Jacqueline T Hecht; W A Horton; Ian J Butler; W D Goldie; M E Miner; R Shannon; R M Pauli
Foramen magnum stenosis in homozygous achondroplasia.
European journal of pediatrics 1986;145(6):545-7.
1985: Jacqueline T Hecht; F W Nelson; Ian J Butler; W A Horton; C I Scott; E R Wassman; C M Mehringer; D L Rimoin; R M Pauli
Computerized tomography of the foramen magnum: achondroplastic values compared to normal standards.
American journal of medical genetics 1985;20(2):355-60.
1984: F W Nelson; W D Goldie; Jacqueline T Hecht; Ian J Butler; C I Scott
Short-latency somatosensory evoked potentials in the management of patients with achondroplasia.
Neurology 1984;34(8):1053-8.