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Cartilage oligomeric matrix protein promotes cell attachment via two independent mechanisms involving CD47 and alphaVbeta3 integrin.
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Rock MJ...Cohn DH
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A gradient of ROR2 protein stability and membrane localization confers brachydactyly type B or Robinow syndrome phenotypes.
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19640924 |
2009 |
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Dominant versus recessive traits conveyed by allelic mutations - to what extent is nonsense-mediated decay involved?
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Ben-Shachar S...Lupski JR
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19236432 |
2009 |
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The deleted in brachydactyly B domain of ROR2 is required for receptor activation by recruitment of Src.
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61
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Akbarzadeh S...Heath JK
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18365018 |
2008 |
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Successful treatment with infliximab of refractory rheumatoid arthritis in a male with 'GDF5 brachydactyly'.
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Suzuki T...Honda Z
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2007 |
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A girl with deletion 9q22.1-q22.32 including the PTCH and ROR2 genes identified by genome-wide array-CGH.
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Nowakowska B...Cai WW
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2007 |
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Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome.
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61
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Zhao X...Zhang X
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17236141 |
2007 |
| 8 |
GDF5 is a second locus for multiple-synostosis syndrome.
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61
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Dawson K...Krakow D
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16532400 |
2006 |
| 9 |
Clinical and molecular characterization of two adults with autosomal recessive Robinow syndrome.
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61
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Tufan F...Horn D
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15952209 |
2005 |
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Attention-deficit/hyperactivity disorder (ADHD) and variable clinical expression of Aarskog-Scott syndrome due to a novel FGD1 gene mutation (R408Q).
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61
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Orrico A...Sorrentino V
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15809997 |
2005 |
| 11 |
Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies.
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61
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Zankl A...Superti-Furga A
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15643621 |
2005 |
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The pathophysiology of HOX genes and their role in cancer.
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61
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Grier DG...Lappin TR
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15643670 |
2005 |
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Brachydactyly in 14 genetically characterized pseudohypoparathyroidism type Ia patients.
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61
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de Sanctis L...de Sanctis C
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2004 |
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Growth hormone deficiency in pseudohypoparathyroidism type 1a: another manifestation of multihormone resistance.
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61
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Germain-Lee EL...Levine MA
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12970262 |
2003 |
| 15 |
ROR2 is mutated in hereditary brachydactyly with nail dysplasia, but not in Sorsby syndrome.
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61
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Bacchelli C...Goodman FR
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12919145 |
2003 |
| 16 |
Functional polymorphisms in the paternally expressed XLalphas and its cofactor ALEX decrease their mutual interaction and enhance receptor-mediated cAMP formation.
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61
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Freson K...Van Geet C
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12719376 |
2003 |
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An I47L substitution in the HOXD13 homeodomain causes a novel human limb malformation by producing a selective loss of function.
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61
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Caronia G...Zappavigna V
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12620993 |
2003 |
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Interstitial deletion of chromosome 9, int del(9)(9q22.31-q31.2), including the genes causing multiple basal cell nevus syndrome and Robinow/brachydactyly 1 syndrome.
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61
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Olivieri C...Danesino C
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12548386 |
2003 |
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Vitreoretinopathy with phalangeal epiphyseal dysplasia, a type II collagenopathy resulting from a novel mutation in the C-propeptide region of the molecule.
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61
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Richards AJ...Hughes H
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12205109 |
2002 |
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The synpolydactyly homolog (spdh) mutation in the mouse -- a defect in patterning and growth of limb cartilage elements.
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61
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Albrecht AN...Mundlos S
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11850178 |
2002 |
| 21 |
A case of a Japanese patient with cleidocranial dysplasia possessing a mutation of CBFA1 gene.
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61
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Sakai N...Takato T
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11886988 |
2002 |
| 22 |
Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III.
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61
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Ludecke HJ...Horsthemke B
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2001 |
| 23 |
Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literature.
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61
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Roscioli T...Glass IA
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10861678 |
2000 |
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Quantitative trait loci for blood pressure exist near the IGF-1, the Liddle syndrome, the angiotensin II-receptor gene and the renin loci in man.
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Nagy Z...Luft FC
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Pseudohypoparathyroidism type Ia from maternal but not paternal transmission of a Gsalpha gene mutation.
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Syndrome of coronal craniosynostosis with brachydactyly and carpal/tarsal coalition due to Pro250Arg mutation in FGFR3 gene.
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61
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Graham JM...Jabs EW
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Familial spondyloepiphyseal dysplasia tarda, brachydactyly, and precocious osteoarthritis associated with an arginine 75-->cysteine mutation in the procollagen type II gene in a kindred of Chiloe Islanders. I. Clinical, radiographic, and pathologic findings.
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61
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Reginato AJ...Williams CJ
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8024616 |
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Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright's hereditary osteodystrophy.
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Patten JL...Levine MA
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2109828 |
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Forefoot malformations, deformities and other congenital defects in children.
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Novel Ocular and Inner Ear Anomalies in a Patient with Myhre Syndrome.
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Skeletal ciliopathies: a pattern recognition approach.
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31965514 |
2020 |
| 32 |
Geleophysic dysplasia: novel missense variants and insights into ADAMTSL2 intracellular trafficking.
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Piccolo P...Brunetti-Pierri N
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31516831 |
2019 |
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Grange syndrome due to homozygous YY1AP1 missense rare variants.
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Myhre syndrome: A first familial recurrence and broadening of the phenotypic spectrum.
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ADAMTS9 and ADAMTS20 are differentially affected by loss of B3GLCT in mouse model of Peters plus syndrome.
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Holdener BC...Haltiwanger RS
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31600785 |
2019 |
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Adamts17 is involved in skeletogenesis through modulation of BMP-Smad1/5/8 pathway.
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Oichi T...Saito T
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[Brachydactyly and the molecular mechanisms of digit formation].
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A novel ADAMTS17 variant that causes Weill-Marchesani syndrome 4 alters fibrillin-1 and collagen type I deposition in the extracellular matrix.
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Poland syndrome: unilateral hypoplastic pectoralis major with brachydactyly.
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Catano JC...Restrepo S
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31326940 |
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Novel de novo interstitial deletion in 2q36.1q36.3 causes syndromic hearing loss and further delineation of the 2q36 deletion syndrome.
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Guan J...Wang QJ
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31403828 |
2019 |
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Lenz-Majewski syndrome in a patient from Egypt.
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Afifi HH...Abdel-Salam GMH
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31403251 |
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An Orofaciodigital Syndrome 1 Patient and Her Mother Carry the Same OFD1 Mutation but Have Different X Chromosome Inactivation Patterns.
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Iijima T...Ubara Y
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PDE3A variant associated with hypertension and brachydactyly syndrome in a patient with ischemic stroke caused by spontaneous intracranial artery dissection: A review of the clinical and molecular genetic features.
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Lee CG...Park JM
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31589936 |
2019 |
| 44 |
Hypertension and brachydactyly syndrome associated with vertebral artery malformation caused by a PDE3A missense mutation.
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Fan P...Zhou XL
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31549136 |
2019 |
| 45 |
An emerging ribosomopathy affecting the skeleton due to biallelic variations in NEPRO.
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Narayanan DL...Girisha KM
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31250547 |
2019 |
| 46 |
A Unique Manifestation of Bardet-Biedl Syndrome with Otolaryngologic Symptoms and Bronchopneumonia in a One-year-old Girl.
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Mahmood SH...Hasan M
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31720185 |
2019 |
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Management of pseudohypoparathyroidism.
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Germain-Lee EL
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31145125 |
2019 |
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A novel nonsense mutation in ADAMTS17 caused autosomal recessive inheritance Weill-Marchesani syndrome from a Chinese family.
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Yi H...He Y
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31019231 |
2019 |
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A 3.06-Mb interstitial deletion on 12p11.22-12.1 caused brachydactyly type E combined with pectus carinatum.
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Huang J...Zhang X
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31283647 |
2019 |
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Peter Plus Syndrome: A Neurosurgeon's Perspective.
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Khatri D...Bhaisora KS
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