PubMed

The Erlenmeyer flask bone deformity in the skeletal dysplasias.

Faden MA, Krakow D, Ezgu F, Rimoin DL, Lachman RS.

Am J Med Genet A. 2009 Jun;149A(6):1334-45. Review.PMID: 19444897 [PubMed - indexed for MEDLINE]Related articles

Transient monoparesis after blade plate removal in a Hutchinson-Gilford progeria syndrome patient: a case report.

Yandow SM, Rimoin DL, Grace AM, Fillman RR, Raney EM.

J Pediatr Orthop B. 2009 May;18(3):151-6.PMID: 19373113 [PubMed - indexed for MEDLINE]Related articles

Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome.

Merrill AE, Merriman B, Farrington-Rock C, Camacho N, Sebald ET, Funari VA, Schibler MJ, Firestein MH, Cohn ZA, Priore MA, Thompson AK, Rimoin DL, Nelson SF, Cohn DH, Krakow D.

Am J Hum Genet. 2009 Apr;84(4):542-9.PMID: 19361615 [PubMed - indexed for MEDLINE]Related articlesFree article

A 785kb deletion of 3p14.1p13, including the FOXP1 gene, associated with speech delay, contractures, hypertonia and blepharophimosis.

Pariani MJ, Spencer A, Graham JM Jr, Rimoin DL.

Eur J Med Genet. 2009 Mar-Jun;52(2-3):123-7. Epub 2009 Mar 28.PMID: 19332160 [PubMed - indexed for MEDLINE]Related articles

Guidelines for the prenatal diagnosis of fetal skeletal dysplasias.

Krakow D, Lachman RS, Rimoin DL.

Genet Med. 2009 Feb;11(2):127-33.PMID: 19265753 [PubMed - indexed for MEDLINE]Related articles

Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia.

Krakow D, Vriens J, Camacho N, Luong P, Deixler H, Funari TL, Bacino CA, Irons MB, Holm IA, Sadler L, Okenfuss EB, Janssens A, Voets T, Rimoin DL, Lachman RS, Nilius B, Cohn DH.

Am J Hum Genet. 2009 Mar;84(3):307-15. Epub 2009 Feb 19.PMID: 19232556 [PubMed - indexed for MEDLINE]Related articlesFree article

A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan.

Tompson SW, Merriman B, Funari VA, Fresquet M, Lachman RS, Rimoin DL, Nelson SF, Briggs MD, Cohn DH, Krakow D.

Am J Hum Genet. 2009 Jan;84(1):72-9. Epub 2008 Dec 24.PMID: 19110214 [PubMed - indexed for MEDLINE]Related articlesFree article

Evaluation of prenatal-onset osteochondrodysplasias by ultrasonography: a retrospective and prospective analysis.

Krakow D, Alanay Y, Rimoin LP, Lin V, Wilcox WR, Lachman RS, Rimoin DL.

Am J Med Genet A. 2008 Aug 1;146A(15):1917-24.PMID: 18627037 [PubMed - indexed for MEDLINE]Related articlesFree article

Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia.

Rock MJ, Prenen J, Funari VA, Funari TL, Merriman B, Nelson SF, Lachman RS, Wilcox WR, Reyno S, Quadrelli R, Vaglio A, Owsianik G, Janssens A, Voets T, Ikegawa S, Nagai T, Rimoin DL, Nilius B, Cohn DH.

Nat Genet. 2008 Aug;40(8):999-1003. Epub 2008 Jun 29.PMID: 18587396 [PubMed - indexed for MEDLINE]Related articles

CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta.

Baldridge D, Schwarze U, Morello R, Lennington J, Bertin TK, Pace JM, Pepin MG, Weis M, Eyre DR, Walsh J, Lambert D, Green A, Robinson H, Michelson M, Houge G, Lindman C, Martin J, Ward J, Lemyre E, Mitchell JJ, Krakow D, Rimoin DL, Cohn DH, Byers PH, Lee B.

Hum Mutat. 2008 Dec;29(12):1435-42.PMID: 18566967 [PubMed - indexed for MEDLINE]Related articlesFree article

Multilayered patella: similar radiographic findings in pseudoachondroplasia and recessive multiple epiphyseal dysplasia.

Vatanavicharn N, Lachman RS, Rimoin DL.

Am J Med Genet A. 2008 Jul 1;146A(13):1682-6.PMID: 18546327 [PubMed - indexed for MEDLINE]Related articles

Dynamic cervicomedullary cord compression and alterations in cerebrospinal fluid dynamics in children with achondroplasia. Report of four cases.

Danielpour M, Wilcox WR, Alanay Y, Pressman BD, Rimoin DL.

J Neurosurg. 2007 Dec;107(6 Suppl):504-7.PMID: 18154022 [PubMed - indexed for MEDLINE]Related articles

The skeletal dysplasias: clinical-molecular correlations.

Rimoin DL, Cohn D, Krakow D, Wilcox W, Lachman RS, Alanay Y.

Ann N Y Acad Sci. 2007 Nov;1117:302-9. Review.PMID: 18056050 [PubMed - indexed for MEDLINE]Related articles

Nucleotide-sugar transporter SLC35D1 is critical to chondroitin sulfate synthesis in cartilage and skeletal development in mouse and human.

Hiraoka S, Furuichi T, Nishimura G, Shibata S, Yanagishita M, Rimoin DL, Superti-Furga A, Nikkels PG, Ogawa M, Katsuyama K, Toyoda H, Kinoshita-Toyoda A, Ishida N, Isono K, Sanai Y, Cohn DH, Koseki H, Ikegawa S.

Nat Med. 2007 Nov;13(11):1363-7. Epub 2007 Oct 21.PMID: 17952091 [PubMed - indexed for MEDLINE]Related articles

Diaphanospondylodysostosis: six new cases and exclusion of the candidate genes, PAX1 and MEOX1.

Vatanavicharn N, Graham JM Jr, Curry CJ, Pepkowitz S, Lachman RS, Rimoin DL, Wilcox WR.

Am J Med Genet A. 2007 Oct 1;143A(19):2292-302.PMID: 17764081 [PubMed - indexed for MEDLINE]Related articles

Angulated femurs and the skeletal dysplasias: experience of the International Skeletal Dysplasia Registry (1988-2006).

Alanay Y, Krakow D, Rimoin DL, Lachman RS.

Am J Med Genet A. 2007 Jun 1;143A(11):1159-68.PMID: 17486589 [PubMed - indexed for MEDLINE]Related articles

The Shwachman-Bodian-Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian type.

Nishimura G, Nakashima E, Hirose Y, Cole T, Cox P, Cohn DH, Rimoin DL, Lachman RS, Miyamoto Y, Kerr B, Unger S, Ohashi H, Superti-Furga A, Ikegawa S.

J Med Genet. 2007 Apr;44(4):e73.PMID: 17400792 [PubMed - indexed for MEDLINE]Related articles

A molecular and clinical study of Larsen syndrome caused by mutations in FLNB.

Bicknell LS, Farrington-Rock C, Shafeghati Y, Rump P, Alanay Y, Alembik Y, Al-Madani N, Firth H, Karimi-Nejad MH, Kim CA, Leask K, Maisenbacher M, Moran E, Pappas JG, Prontera P, de Ravel T, Fryns JP, Sweeney E, Fryer A, Unger S, Wilson LC, Lachman RS, Rimoin DL, Cohn DH, Krakow D, Robertson SP.

J Med Genet. 2007 Feb;44(2):89-98. Epub 2006 Jun 26.PMID: 16801345 [PubMed - indexed for MEDLINE]Related articles

Osteocraniostenosis-hypomineralized skull with gracile long bones and splenic hypoplasia. Four new cases with distinctive chondro-osseous morphology.

Elliott AM, Wilcox WR, Spear GS, Field FM, Steffensen TS, Friedman BD, Rimoin DL, Lachman RS.

Am J Med Genet A. 2006 Jul 15;140(14):1553-63.PMID: 16770805 [PubMed - indexed for MEDLINE]Related articles

Mutations in two regions of FLNB result in atelosteogenesis I and III.

Farrington-Rock C, Firestein MH, Bicknell LS, Superti-Furga A, Bacino CA, Cormier-Daire V, Le Merrer M, Baumann C, Roume J, Rump P, Verheij JB, Sweeney E, Rimoin DL, Lachman RS, Robertson SP, Cohn DH, Krakow D.

Hum Mutat. 2006 Jul;27(7):705-10.PMID: 16752402 [PubMed - indexed for MEDLINE]Related articles

Pachydermoperiostosis: an update.

Castori M, Sinibaldi L, Mingarelli R, Lachman RS, Rimoin DL, Dallapiccola B.

Clin Genet. 2005 Dec;68(6):477-86. Review.PMID: 16283874 [PubMed - indexed for MEDLINE]Related articles

The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene.

Hoornaert KP, Dewinter C, Vereecke I, Beemer FA, Courtens W, Fryer A, Fryssira H, Lees M, Müllner-Eidenböck A, Rimoin DL, Siderius L, Superti-Furga A, Temple K, Willems PJ, Zankl A, Zweier C, De Paepe A, Coucke P, Mortier GR.

J Med Genet. 2006 May;43(5):406-13. Epub 2005 Sep 9.PMID: 16155195 [PubMed - indexed for MEDLINE]Related articlesFree article

Spondylo-mega-epiphyseal dysplasia with prominent upper limb mesomelia, punctate calcifications, and deafness.

Agarwal VK, Lachman RS, Rimoin DL, Wilcox WR.

Am J Med Genet A. 2005 Jul 30;136(3):233-41. Review.PMID: 15954110 [PubMed - indexed for MEDLINE]Related articles

Distinguishing Pacman dysplasia from mucolipidosis II: comment on Saul et al. [2005].

Wilcox WR, Wenger DA, Lachman RS, Rimoin DL.

Am J Med Genet A. 2005 Jun 15;135(3):333. No abstract available. PMID: 15887286 [PubMed - indexed for MEDLINE]Related articles

Hand involvement in Schmid metaphyseal chondrodysplasia.

Elliott AM, Field FM, Rimoin DL, Lachman RS.

Am J Med Genet A. 2005 Jan 15;132A(2):191-3.PMID: 15578582 [PubMed - indexed for MEDLINE]Related articles

MED, COMP, multilayered and NEIN: an overview of multiple epiphyseal dysplasia.

Lachman RS, Krakow D, Cohn DH, Rimoin DL.

Pediatr Radiol. 2005 Feb;35(2):116-23. Epub 2004 Oct 21. Review.PMID: 15503005 [PubMed - indexed for MEDLINE]Related articles

Skeletal dysplasias.

Savarirayan R, Rimoin DL.

Adv Pediatr. 2004;51:209-29. No abstract available. PMID: 15366775 [PubMed - indexed for MEDLINE]Related articles

A history of medical genetics in pediatrics.

Rimoin DL, Hirschhorn K.

Pediatr Res. 2004 Jul;56(1):150-9. Epub 2004 May 5.PMID: 15128921 [PubMed - indexed for MEDLINE]Related articles

Occipital projections in the skeletal dysplasias.

Takamine Y, Lachman RS, Field FM, Rimoin DL.

Pediatr Radiol. 2004 Jul;34(7):530-4. Epub 2004 Apr 24.PMID: 15107965 [PubMed - indexed for MEDLINE]Related articles

Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis.

Krakow D, Robertson SP, King LM, Morgan T, Sebald ET, Bertolotto C, Wachsmann-Hogiu S, Acuna D, Shapiro SS, Takafuta T, Aftimos S, Kim CA, Firth H, Steiner CE, Cormier-Daire V, Superti-Furga A, Bonafe L, Graham JM Jr, Grix A, Bacino CA, Allanson J, Bialer MG, Lachman RS, Rimoin DL, Cohn DH.

Nat Genet. 2004 Apr;36(4):405-10. Epub 2004 Feb 29.PMID: 14991055 [PubMed - indexed for MEDLINE]Related articles

Use of three-dimensional ultrasound imaging in the diagnosis of prenatal-onset skeletal dysplasias.

Krakow D, Williams J 3rd, Poehl M, Rimoin DL, Platt LD.

Ultrasound Obstet Gynecol. 2003 May;21(5):467-72.PMID: 12768559 [PubMed - indexed for MEDLINE]Related articles

Pacman dysplasia: a lethal skeletal dysplasia with variable radiographic features.

Miller SF, Proud VK, Werner AL, Field FM, Wilcox WF, Lachman RS, Rimoin DL.

Pediatr Radiol. 2003 Apr;33(4):256-60. Epub 2003 Feb 5.PMID: 12709756 [PubMed - indexed for MEDLINE]Related articles

Clinical, radiological, and chondro-osseous findings in opsismodysplasia: survey of a series of 12 unreported cases.

Cormier-Daire V, Delezoide AL, Philip N, Marcorelles P, Casas K, Hillion Y, Faivre L, Rimoin DL, Munnich A, Maroteaux P, Le Merrer M.

J Med Genet. 2003 Mar;40(3):195-200. No abstract available. PMID: 12624139 [PubMed - indexed for MEDLINE]Related articlesFree article

Broad phenotypic spectrum caused by an identical heterozygous CDMP-1 mutation in three unrelated families.

Savarirayan R, White SM, Goodman FR, Graham JM Jr, Delatycki MB, Lachman RS, Rimoin DL, Everman DB, Warman ML.

Am J Med Genet A. 2003 Mar 1;117A(2):136-42.PMID: 12567410 [PubMed - indexed for MEDLINE]Related articles

Mental retardation and abnormal skeletal development (Dyggve-Melchior-Clausen dysplasia) due to mutations in a novel, evolutionarily conserved gene.

Cohn DH, Ehtesham N, Krakow D, Unger S, Shanske A, Reinker K, Powell BR, Rimoin DL.

Am J Hum Genet. 2003 Feb;72(2):419-28. Epub 2002 Dec 16.PMID: 12491225 [PubMed - indexed for MEDLINE]Related articlesFree article

The skeletal dysplasias.

Savarirayan R, Rimoin DL.

Best Pract Res Clin Endocrinol Metab. 2002 Sep;16(3):547-60. Review.PMID: 12464233 [PubMed - indexed for MEDLINE]Related articles

Spectrum of dolichospondylic dysplasia: two new patients with distinctive findings.

Elliott AM, Graham JM Jr, Curry CJ, Pal T, Rimoin DL, Lachman RS.

Am J Med Genet. 2002 Dec 15;113(4):351-61.PMID: 12457407 [PubMed - indexed for MEDLINE]Related articles

Prenatal cortical hyperostosis (Caffey disease).

Savarirayan R, Cormier-Daire V, Amor DJ, Wilcox WR, Lachman RS, Rimoin DL.

Pediatr Radiol. 2002 Sep;32(9):694. No abstract available. PMID: 12422848 [PubMed - indexed for MEDLINE]Related articles

Evidence that Smith-McCort dysplasia and Dyggve-Melchior-Clausen dysplasia are allelic disorders that result from mutations in a gene on chromosome 18q12.

Ehtesham N, Cantor RM, King LM, Reinker K, Powell BR, Shanske A, Unger S, Rimoin DL, Cohn DH.

Am J Hum Genet. 2002 Oct;71(4):947-51. Epub 2002 Aug 2.PMID: 12161821 [PubMed - indexed for MEDLINE]Related articlesFree article

Worldwide mutation spectrum in cartilage-hair hypoplasia: ancient founder origin of the major70A-->G mutation of the untranslated RMRP.

Ridanpää M, Sistonen P, Rockas S, Rimoin DL, Mäkitie O, Kaitila I.

Eur J Hum Genet. 2002 Jul;10(7):439-47.PMID: 12107819 [PubMed - indexed for MEDLINE]Related articlesFree article

Cerebro-osseous-digital syndrome: four new cases of a lethal skeletal dysplasia--distinct from Neu-Laxova Syndrome.

Elliott AM, Gonzales M, Hoeffel JC, Le Merrer M, Maroteaux P, Encha-Razavi F, Joye N, Berchel C, Fliegel C, Aughton DJ, Beaudry-Rodgers K, Hasteh F, Nerlich AG, Wilcox WR, Rimoin DL, Lachman RS, Freisinger P.

Am J Med Genet. 2002 Apr 22;109(2):139-48.PMID: 11977163 [PubMed - indexed for MEDLINE]Related articles

Orthopaedic manifestations of Marinesco-Sjögren syndrome.

Reinker K, Hsia YE, Rimoin DL, Henry G, Yuen J, Powell B, Wilcox WR.

J Pediatr Orthop. 2002 May-Jun;22(3):399-403.PMID: 11961464 [PubMed - indexed for MEDLINE]Related articles

Molecular-pathogenetic classification of genetic disorders of the skeleton.

Superti-Furga A, Bonafé L, Rimoin DL.

Am J Med Genet. 2001 Winter;106(4):282-93. Review.PMID: 11891680 [PubMed - indexed for MEDLINE]Related articles

Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita.

Unger S, Korkko J, Krakow D, Lachman RS, Rimoin DL, Cohn DH.

Am J Med Genet. 2001 Nov 22;104(2):140-6.PMID: 11746045 [PubMed - indexed for MEDLINE]Related articles

The molecular basis of X-linked spondyloepiphyseal dysplasia tarda.

Gedeon AK, Tiller GE, Le Merrer M, Heuertz S, Tranebjaerg L, Chitayat D, Robertson S, Glass IA, Savarirayan R, Cole WG, Rimoin DL, Kousseff BG, Ohashi H, Zabel B, Munnich A, Gecz J, Mulley JC.

Am J Hum Genet. 2001 Jun;68(6):1386-97. Epub 2001 May 8.PMID: 11349230 [PubMed - indexed for MEDLINE]Related articlesFree article

"Baby rattle" pelvis dysplasia.

Cormier-Daire V, Savarirayan R, Lachman RS, Neidich JA, Grace K, Rimoin DL, Wilcox WR.

Am J Med Genet. 2001 Apr 15;100(1):37-42.PMID: 11337746 [PubMed - indexed for MEDLINE]Related articles

"Duplicate calcaneus": a rare developmental defect observed in several skeletal dysplasias.

Cormier-Daire V, Savarirayan R, Unger S, Rimoin DL, Lachman RS.

Pediatr Radiol. 2001 Jan;31(1):38-42.PMID: 11200997 [PubMed - indexed for MEDLINE]Related articles

Multiple epiphyseal dysplasia: radiographic abnormalities correlated with genotype.

Unger SL, Briggs MD, Holden P, Zabel B, Ala-Kokko L, Paassilta P, Lohiniva J, Rimoin DL, Lachman RS, Cohn DH.

Pediatr Radiol. 2001 Jan;31(1):10-8.PMID: 11200990 [PubMed - indexed for MEDLINE]Related articles

Scapuloiliac dysostosis (Kosenow syndrome, pelvis-shoulder dysplasia) spectrum: three additional cases.

Elliott AM, Roeder ER, Witt DR, Rimoin DL, Lachman RS.

Am J Med Genet. 2000 Dec 18;95(5):496-506.PMID: 11146473 [PubMed - indexed for MEDLINE]Related articles

Oto-palato-digital syndrome, type II: report of three cases with further delineation of the chondro-osseous morphology.

Savarirayan R, Cormier-Daire V, Unger S, Lachman RS, Roughley PJ, Wagner SF, Rimoin DL, Wilcox WR.

Am J Med Genet. 2000 Nov 27;95(3):193-200.PMID: 11102922 [PubMed - indexed for MEDLINE]Related articles