Use of three-dimensional ultrasonography in differentiating craniosynostosis from severe fetal moldingKRAKOW, Deborah; SANTULLI, Thomas; PLATT, Lawrence D et al.Journal of ultrasound in medicine. 2001, Vol 20, Num 4, pp 427-431, issn 0278-4297Article

Expanded Clinical Spectrum of Spondylocarpotarsal Synostosis Syndrome and Possible Manifestation in a Heterozygous FatherMINER, Diana; KRAKOW, Deborah; FARRINGTON-ROCK, Claire et al.American journal of medical genetics. Part A. 2008, Vol 146, Num 6, pp 779-783, issn 1552-4825, 5 p.Article

Angulated femurs and the Skeletal dysplasias: Experience of the international Skeletal Dysplasia Registry (1988-2006)ALANAY, Yasemin; KRAKOW, Deborah; RIMOIN, David L et al.American journal of medical genetics. Part A. 2007, Vol 143, Num 11, pp 1159-1168, issn 1552-4825, 10 p.Article

Fibroblast growth factors 1, 2, 17, and 19 are the predominant FGF ligands expressed in human fetal growth plate cartilageKREJCI, Pavel; KRAKOW, Deborah; MEKIKIAN, Pertchoui B et al.Pediatric research. 2007, Vol 61, Num 3, pp 267-272, issn 0031-3998, 6 p.Article

A Newly Recognized Syndrome With Characteristic Facial Features, Skeletal Dysplasia, and Developmental DelayBARATELA, Wagner A. R; BOBER, Michael B; LACHMAN, Ralph et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 8, pp 1815-1822, issn 1552-4825, 8 p.Article

Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesisKRAKOW, Deborah; ROBERTSON, Stephen P; AFTIMOS, Salim et al.Nature genetics. 2004, Vol 36, Num 4, pp 405-410, issn 1061-4036, 6 p.Article

The Erlenmeyer Flask Bone Deformity in the Skeletal DysplasiasFADEN, Maha A; KRAKOW, Deborah; EZGU, Fatih et al.American journal of medical genetics. Part A. 2009, Vol 149, Num 6, pp 1334-1345, issn 1552-4825, 12 p.Article

Dysregulation of chondrogenesis in human cleidocranial dysplasiaQIPING ZHENG; SEBALD, Eiman; GUANG ZHOU et al.American journal of human genetics. 2005, Vol 77, Num 2, pp 305-312, issn 0002-9297, 8 p.Article

Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasiaALLALI, Slimane; LE GOFF, Carine; DROUIN-GARRAUD, Valéie et al.Journal of medical genetics. 2011, Vol 48, Num 6, pp 417-421, issn 0022-2593, 5 p.Article

Fibrochondrogenesis Results from Mutations in the COL11A1 Type XI Collagen GeneTOMPSON, Stuart W; BACINO, Carlos A; EYRE, David R et al.American journal of human genetics. 2010, Vol 87, Num 5, pp 708-712, issn 0002-9297, 5 p.Article

Collagen XI sequence variations in nonsyndromic cleft palate, Robin sequence and micrognathiaMELKONIEMI, Miia; KOILLINEN, Hannele; KRAKOW, Deborah et al.European journal of human genetics. 2003, Vol 11, Num 3, pp 265-270, issn 1018-4813, 6 p.Article

Mutations in FKBP10 Cause Recessive Osteogenesis Imperfecta and Bruck SyndromeKELLEY, Brian P; MALFAIT, Fransiska; GILLEROT, Yves et al.Journal of bone and mineral research (Print). 2011, Vol 26, Num 3, pp 666-672, issn 0884-0431, 7 p.Article

Dominant TRPV4 Mutations in Nonlethal and Lethal Metatropic DysplasiaCAMACHO, Natalia; KRAKOW, Deborah; JOHNYKUTTY, Sharlin et al.American journal of medical genetics. Part A. 2010, Vol 152, Num 5, pp 1169-1177, issn 1552-4825, 9 p.Article

A Recessive Skeletal Dysplasia, SEMD Aggrecan Type, Results from a Missense Mutation Affecting the C-Type Lectin Domain of AggrecanTOMPSON, Stuart W; MERRIMAN, Barry; FUNARI, Vincent A et al.American journal of human genetics. 2009, Vol 84, Num 1, pp 72-79, issn 0002-9297, 8 p.Article

Mutations in the Gene Encoding the Calcium-Permeable Ion Channel TRPV4 Produce Spondylometaphyseal Dysplasia, Kozlowski Type and Metatropic DysplasiaKRAKOW, Deborah; VRIENS, Joris; OKENFUSS, Ericka B et al.American journal of human genetics. 2009, Vol 84, Num 3, pp 307-315, issn 0002-9297, 9 p.Article

A molecular and clinical study of larsen syndrome caused by mutations in FLNBBICKNELL, Louise S; FARRINGTON-ROCK, Claire; LEASK, Kathryn et al.Journal of medical genetics. 2007, Vol 44, Num 2, pp 89-98, issn 0022-2593, 10 p.Article

Exome Sequencing Identifies PDE4D Mutations in AcrodysostosisLEE, Hane; GRAHAM, John M; RIMOIN, David L et al.American journal of human genetics. 2012, Vol 90, Num 4, pp 746-751, issn 0002-9297, 6 p.Article

Mutations in the TGFβ Binding-Protein-Like Domain 5 of FBN1 Are Responsible for Acromicric and Geleophysic DysplasiasLE GOFF, Carine; MAHAUT, Clementine; BRADY, Angela F et al.American journal of human genetics. 2011, Vol 89, Num 1, pp 7-14, issn 0002-9297, 8 p.Article

Nosology and Classification of Genetic Skeletal Disorders: 2010 RevisionWARMAN, Matthew L; CORMIER-DAIRE, Valerie; ROBERTSON, Stephen et al.American journal of medical genetics. Part A. 2011, Vol 155, Num 5, pp 943-968, issn 1552-4825, 26 p.Article

Ciliary Abnormalities Due to Defects in the Retrograde Transport Protein DYNC2H1 in Short-Rib Polydactyly SyndromeMERRILL, Amy E; MERRIMAN, Barry; THOMPSON, Alicia K et al.American journal of human genetics. 2009, Vol 84, Num 4, pp 542-549, issn 0002-9297, 8 p.Article

WNT1 Mutations in Early-Onset Osteoporosis and Osteogenesis ImperfectaLAINE, Christine M; KYU SANG JOENG; NIEMINEN-PIHALA, Vappu et al.The New England journal of medicine. 2013, Vol 368, Num 19, pp 1809-1816, issn 0028-4793, 8 p.Article

Lethal Skeletal Dysplasia in Mice and Humans Lacking the Golgin GMAP-210SMITS, Patrick; BOLTON, Andrew D; MERRIMAN, Barry et al.The New England journal of medicine. 2010, Vol 362, Num 3, pp 206-216, issn 0028-4793, 11 p.Article

ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-β bioavailability regulationLE GOFF, Carine; MORICE-PICARD, Fanny; GAOXIANG GE et al.Nature genetics. 2008, Vol 40, Num 9, pp 1119-1123, issn 1061-4036, 5 p.Article

GDF5 is a second locus for multiple-synostosis syndromeDAWSON, Katherine; SEEMAN, Petra; SEBALD, Eiman et al.American journal of human genetics. 2006, Vol 78, Num 4, pp 708-712, issn 0002-9297, 5 p.Article

Mental retardation and abnormal skeletal development (dyggve-melchior-clausen dysplasia) due to mutations in a novel, evolutionarily conserved geneCOHN, Daniel H; EHTESHAM, Nadia; KRAKOW, Deborah et al.American journal of human genetics. 2003, Vol 72, Num 2, pp 419-428, issn 0002-9297, 10 p.Article