| 1 |
The TGFβ type I receptor TGFβRI functions as an inhibitor of BMP signaling in cartilage.
61
|
Wang W...Lyons KM
|
31311865 |
2019 |
| 2 |
A recessive lethal chondrodysplasia in a miniature zebu family results from an insertion affecting the chondroitin sulfat domain of aggrecan.
61
|
Struck AK...Distl O
|
30305023 |
2018 |
| 3 |
Germline mutation within COL2A1 associated with lethal chondrodysplasia in a polled Holstein family.
61
|
Reinartz S...Distl O
|
29017490 |
2017 |
| 4 |
Lethal chondrodysplasia in a family of Holstein cattle is associated with a de novo splice site variant of COL2A1.
61
|
Agerholm JS...Drogemuller C
|
27296271 |
2016 |
| 5 |
[Pathophysiology of Hypoparathyroidism].
61
|
Michigami T
|
27230838 |
2016 |
| 6 |
The type I BMP receptor ACVR1/ALK2 is required for chondrogenesis during development.
61
|
Rigueur D...Lyons KM
|
25413979 |
2015 |
| 7 |
A second family with autosomal recessive spondylometaphyseal dysplasia and early death.
61
|
Megarbane A...Cormier-Daire V
|
24458487 |
2014 |
| 8 |
The transcriptional co-regulator Jab1 is crucial for chondrocyte differentiation in vivo.
61
|
Chen D...Zhou G
|
23203803 |
2013 |
| 9 |
Perlecan modulates VEGF signaling and is essential for vascularization in endochondral bone formation.
61
|
Ishijima M...Yamada Y
|
22421594 |
2012 |
| 10 |
A novel X-linked multiple congenital anomaly syndrome associated with an EBP mutation.
61
|
Furtado LV...Rope AF
|
20949533 |
2010 |
| 11 |
[Cytokines in bone diseases. Genetic defects of PTH/PTHrP receptor in chondrodysplasia].
61
|
Ogata N
|
20890029 |
2010 |
| 12 |
In vitro readthrough of termination codons by gentamycin in the Stüve-Wiedemann Syndrome.
61
|
Bellais S...Cormier-Daire V
|
19603067 |
2010 |
| 13 |
Thanatophoric dysplasia caused by double missense FGFR3 mutations.
61
|
Pannier S...Legeai-Mallet L
|
19449430 |
2009 |
| 14 |
Rat wild-type parathyroid hormone receptor (PTH-R) and mutant PTH-R(P132L) show the different intracellular localization in vitro.
61
|
Shimomura-Kuroki J...Amizuka N
|
18480546 |
2008 |
| 15 |
Achondrogenesis Type IA (Houston-Harris): a still-unresolved molecular phenotype.
61
|
Aigner T...Thiel CT
|
17638425 |
2007 |
| 16 |
Chondroitin sulfate perlecan enhances collagen fibril formation. Implications for perlecan chondrodysplasias.
61
|
Kvist AJ...Aspberg A
|
16956876 |
2006 |
| 17 |
Short rib-polydactyly syndrome: lethal chondrodysplasia associated with brain malformations in a 35-week-gestation infant.
61
|
Yamaguchi K...Suzumura H
|
16719409 |
2006 |
| 18 |
PTHrP, PTH, and the PTH/PTHrP receptor in endochondral bone development.
61
|
Schipani E...Provot S
|
14745975 |
2003 |
| 19 |
Role of collagen type II and perlecan in skeletal development.
61
|
Gustafsson E...Fassler R
|
12814946 |
2003 |
| 20 |
Auditory function associated with Col11a1 haploinsufficiency in chondrodysplasia (cho) mice.
61
|
Szymko-Bennett YM...Griffith AJ
|
12527136 |
2003 |
| 21 |
Lethal non-rhizomelic dysplasia epiphysealis punctata.
61
|
Kozlowski K...Beighton P
|
12072802 |
2002 |
| 22 |
Role of parathyroid hormone-related peptide and Indian hedgehog in skeletal development.
61
|
Juppner H
|
10912527 |
2000 |
| 23 |
Abnormal sterol metabolism in patients with Conradi-Hünermann-Happle syndrome and sporadic lethal chondrodysplasia punctata.
61
|
Kelley RI...Rimoin DS
|
10096601 |
1999 |
| 24 |
Prenatal ultrasonographic description and postnatal pathological findings in atelosteogenesis type 1.
61
|
Bejjani BA...Lupski JR
|
9779808 |
1998 |
| 25 |
Prenatal ultrasonography: clinical and radiological findings in a boy with fibrochondrogenesis.
61
|
Megarbane A...Berjaoui L
|
9759906 |
1998 |
| 26 |
Variability of platyspondylic lethal chondrodysplasia: another case report.
61
|
Nishimura G...Ito T
|
9689993 |
1998 |
| 27 |
Chondrodysplasia in Australian Dexter cattle.
61
|
Harper PA...Gill PA
|
9578757 |
1998 |
| 28 |
Atelosteogenesis type 2.
61
|
Newbury-Ecob R
|
9475095 |
1998 |
| 29 |
Expect the worse or hope for the best? Prenatal diagnosis of geleophysic dysplasia.
61
|
Rennie AC...Tolmie JL
|
9399356 |
1997 |
| 30 |
Undersulfation of cartilage proteoglycans ex vivo and increased contribution of amino acid sulfur to sulfation in vitro in McAlister dysplasia/atelosteogenesis type 2.
61
|
Rossi A...Cetta G
|
9342225 |
1997 |
| 31 |
Familial Blomstrand chondrodysplasia with advanced skeletal maturation: further delineation.
61
|
Loshkajian A...Maroteaux P
|
9268097 |
1997 |
| 32 |
New form of platyspondylic lethal chondrodysplasia.
61
|
Akaba K...Hayasaka K
|
8989469 |
1996 |
| 33 |
Undersulfation of proteoglycans synthesized by chondrocytes from a patient with achondrogenesis type 1B homozygous for an L483P substitution in the diastrophic dysplasia sulfate transporter.
61
|
Rossi A...Superti-Furga A
|
8702490 |
1996 |
| 34 |
A new lethal chondrodysplasia with platyspondyly, long bone angulation and mixed bone density.
61
|
Seller MJ...Hall CM
|
8818449 |
1996 |
| 35 |
A new case of fibrochondrogenesis from Spain.
61
|
Martinez-Frias ML...Urioste M
|
8733059 |
1996 |
| 36 |
Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias.
61
|
Hastbacka J...Lander ES
|
8571951 |
1996 |
| 37 |
Immunological disorder and Hirschsprung disease in round femoral inferior epiphysis dysplasia.
61
|
Lecora M...Andria G
|
7606319 |
1995 |
| 38 |
Three-dimensional ultrasound in prenatal diagnosis of skeletal dysplasia.
61
|
Steiner H...Staudach A
|
7617580 |
1995 |
| 39 |
Achondrogenesis type IB (Fraccaro): study of collagen in the tissue and in chondrocytes cultured in agarose.
61
|
Freisinger P...Bonaventure J
|
8160740 |
1994 |
| 40 |
Atelosteogenesis type II: sonographic and radiological correlation.
61
|
Nores JA...Hobbins JC
|
1279661 |
1992 |
| 41 |
[Achondrogenesis. Ultrasonic diagnosis and clinical and anatomopathologic comparison].
61
|
Mandjee D...Clamaran E
|
1871502 |
1991 |
| 42 |
Fibrochondrogenesis in male twins at 24 weeks gestation.
61
|
Bankier A...Sillence DO
|
2012139 |
1991 |
| 43 |
Ultrastructural abnormalities in bone and calcifying cartilage in two siblings with a newly described recessive lethal chondrodysplasia.
61
|
Gruber HE...Rimoin DL
|
2382311 |
1990 |
| 44 |
Recessive lethal chondrodysplasia, "round femoral inferior epiphysis type".
61
|
Maroteaux P...Cousin J
|
3396596 |
1988 |
| 45 |
Lethal chondrodysplasia punctata in two siblings.
61
|
Tekinalp G...Toppare M
|
3451425 |
1987 |
| 46 |
Lethal chondrodysplasia punctata, Conradi Hünermann subtype A, one case.
61
|
Gaulier A...Babin C
|
3588407 |
1987 |
| 47 |
A distinct lethal neonatal chondrodysplasia with snail-like pelvis: Schneckenbecken dysplasia.
61
|
Borochowitz Z...Rimoin DL
|
3799723 |
1986 |
| 48 |
A new lethal chondrodysplasia with spondylocostal dysostosis, multiple internal anomalies and Dandy-Walker cyst.
61
|
Moerman P...Lauweryns JM
|
3884191 |
1985 |
| 49 |
Thanatophoric dysplasia.
61
|
Tanaka T...Takahashi M
|
6430028 |
1984 |
| 50 |
Two lethal chondrodysplasias with giant chondrocytes.
61
|
Yang SS...Singer DB
|
6614049 |
1983 |
Rare bone diseases 
