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Items: 19

Select item 25979801.

Genotypes and phenotypes in children with short stature: clinical indicators of SHOX haploinsufficiency

Gudrun Rappold, Werner F Blum, Elena P Shavrikova, Brenda J Crowe, Ralph Roeth, Charmian A Quigley, Judith L Ross, Beate Niesler

J Med Genet. 2007 May; 44(5): 306–313. Published online 2006 Dec 20. doi: 10.1136/jmg.2006.046581

PMCID:: PMC2597980

Abstract Article PDF–168K

Select item 110584042.

Cartilage within lipomyelomeningocele and ulnar longitudinal deficiency syndrome as VACTERL association, alliance in SHH/GLI3, and Wnt pathway: illustrative case

Mikael Aseged Shimekit, Ermias Fikru Yesuf, Simon Mulugeta Teferi, Mahlet Getachew Lemma

J Neurosurg Case Lessons. 2024 Apr 29; 7(18): CASE24177. Published online 2024 Apr 29. doi: 10.3171/CASE24177

PMCID:: PMC11058404

Abstract Article PDF–1001K

Select item 77116373.

Detection of SHOX Gene Variations in Patients with Skeletal Abnormalities with or without Short Stature

Semra Gürsoy, Filiz Hazan, Ayça Aykut, Özlem Nalbantoğlu, Hüseyin Anıl Korkmaz, Korcan Demir, Behzat Özkan, Özgür Çoğulu

J Clin Res Pediatr Endocrinol. 2020 Dec; 12(4): 358–365. Published online 2020 Nov 25. doi: 10.4274/jcrpe.galenos.2020.2019.0001

PMCID:: PMC7711637

Abstract Article PDF–711K

Select item 61731664.

Osteology of a forelimb of an aetosaur Stagonolepis olenkae (Archosauria: Pseudosuchia: Aetosauria) from the Krasiejów locality in Poland and its probable adaptations for a scratch-digging behavior

Dawid Dróżdż

PeerJ. 2018; 6: e5595. Published online 2018 Oct 2. doi: 10.7717/peerj.5595

PMCID:: PMC6173166

Abstract Article PDF–18M

Select item 54479035.

Current Concepts in Radial Club Hand

Takehiko Takagi, Atsuhito Seki, Shinichiro Takayama, Masahiko Watanabe

Open Orthop J. 2017; 11: 369–377. Published online 2017 Apr 28. doi: 10.2174/1874325001711010369

PMCID:: PMC5447903

Abstract Article PDF–10M

Select item 46174216.

Dental Management of a Patient with Nager Acrofacial Dysostosis

R. Bozatlıoğlu, A. P. Münevveroğlu

Case Rep Dent. 2015; 2015: 984732. Published online 2015 Oct 7. doi: 10.1155/2015/984732

PMCID:: PMC4617421

Abstract Article PDF–1.6M

Select item 344157.

Haploinsufficiency of Sox9 results in defective cartilage primordia and premature skeletal mineralization

Weimin Bi, Wendong Huang, Deanne J. Whitworth, Jian Min Deng, Zhaoping Zhang, Richard R. Behringer, Benoit de Crombrugghe

Proc Natl Acad Sci U S A. 2001 Jun 5; 98(12): 6698–6703. Published online 2001 May 22. doi: 10.1073/pnas.111092198

PMCID:: PMC34415

Abstract Article PDF–1.5M

Select item 10136698.

Familial radioulnar synostosis.

R A Spritz

J Med Genet. 1978 Apr; 15(2): 160–162. doi: 10.1136/jmg.15.2.160

PMCID:: PMC1013669

Summary Page Browse PDF–547K

Select item 10161009.

Weyers' ulnar ray/oligodactyly syndrome and the association of midline malformations with ulnar ray defects.

P D Turnpenny, J C Dean, P Duffty, J A Reid, P Carter

J Med Genet. 1992 Sep; 29(9): 659–662. doi: 10.1136/jmg.29.9.659

PMCID:: PMC1016100

Summary Page Browse PDF–1.3M

Select item 227522510.

PITX2 gain-of-function induced defects in mouse forelimb development

Johan Holmberg, Gorel Ingner, Curt Johansson, Peter Leander, Tord A Hjalt

BMC Dev Biol. 2008; 8: 25. Published online 2008 Feb 29. doi: 10.1186/1471-213X-8-25

PMCID:: PMC2275225

Abstract Article PDF–1.2M

Select item 256462311.

Breakpoints around the HOXD cluster result in various limb malformations

B Dlugaszewska, A Silahtaroglu, C Menzel, S Kübart, M Cohen, S Mundlos, Z Tümer, K Kjaer, U Friedrich, H‐H Ropers, N Tommerup, H Neitzel, V M Kalscheuer

J Med Genet. 2006 Feb; 43(2): 111–118. Published online 2005 Jun 24. doi: 10.1136/jmg.2005.033555

PMCID:: PMC2564623

Abstract Article PDF–814K

Select item 300284912.

Mesomelic dysplasia Kantaputra type is associated with duplications of the HOXD locus on chromosome 2q

Piranit N Kantaputra, Eva Klopocki, Bianca P Hennig, Verayuth Praphanphoj, Cédric Le Caignec, Bertrand Isidor, Mei L Kwee, Deborah J Shears, Stefan Mundlos

Eur J Hum Genet. 2010 Dec; 18(12): 1310–1314. Published online 2010 Jul 21. doi: 10.1038/ejhg.2010.116

PMCID:: PMC3002849

Abstract Article PDF–305K

Select item 467842913.

Mutations in MECOM, Encoding Oncoprotein EVI1, Cause Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia

Tetsuya Niihori, Meri Ouchi-Uchiyama, Yoji Sasahara, Takashi Kaneko, Yoshiko Hashii, Masahiro Irie, Atsushi Sato, Yuka Saito-Nanjo, Ryo Funayama, Takeshi Nagashima, Shin-ichi Inoue, Keiko Nakayama, Keiichi Ozono, Shigeo Kure, Yoichi Matsubara, Masue Imaizumi, Yoko Aoki

Am J Hum Genet. 2015 Dec 3; 97(6): 848–854. Published online 2015 Nov 12. doi: 10.1016/j.ajhg.2015.10.010

PMCID:: PMC4678429

Abstract Article PDF–898K

Select item 605710314.

Cenani-Lenz syndactyly syndrome - a case report of a family with isolated syndactyly

Dineshani Hettiaracchchi, Carine Bonnard, S. M. A. Jayawardana, Alvin Yu Jin Ng, Sumanty Tohari, Byrappa Venkatesh, Bruno Reversade, Roshni Singaraja, V. H. W. Dissanayake

BMC Med Genet. 2018; 19: 125. Published online 2018 Jul 24. doi: 10.1186/s12881-018-0646-1

PMCID:: PMC6057103

Abstract Article PDF–1.0M

Select item 817058715.

Novel progressive acrodysostosis-like skeletal dysplasia, cerebellar atrophy, and ichthyosis

Harvy M. Velasco, Ehsan Ullah, Angela M. Martin, Robert B. Hufnagel, Carlos E. Prada

Am J Med Genet A. Author manuscript; available in PMC 2021 Oct 1.

Published in final edited form as: Am J Med Genet A. 2020 Oct; 182(10): 2214–2221. Published online 2020 Aug 11. doi: 10.1002/ajmg.a.61782

PMCID:: PMC8170587

Abstract Article PDF–1.0M

Select item 880114816.

A genotype and phenotype analysis of SMAD6 mutant patients with radioulnar synostosis

Fang Shen, Yongjia Yang, Pengcheng Li, Yu Zheng, Zhenqing Luo, Yuyan Fu, Guanghui Zhu, Haibo Mei, Shanlin Chen, Yimin Zhu

Mol Genet Genomic Med. 2022 Jan; 10(1): e1850. Published online 2021 Dec 24. doi: 10.1002/mgg3.1850

PMCID:: PMC8801148

Abstract Article PDF–1.5M

Select item 1076761217.

A novel homozygous missense variant in LRP4 causing Cenani‐Lenz syndactyly syndrome and literature review

Yadong Fu, Yueyun Zhou, Qing'e Zhang, Jingjing Dong, Jianli Zheng, Min Li, Jianbing Liu

Mol Genet Genomic Med. 2024 Jan; 12(1): e2319. Published online 2023 Nov 27. doi: 10.1002/mgg3.2319

PMCID:: PMC10767612

Abstract Article PDF–2.0M

Select item 1079946018.

A novel missense mutation in the MECOM gene in a Chinese boy with radioulnar synostosis with amegakaryocytic thrombocytopenia

Duowen Huang, Mingyan Jiang, Yiping Zhu, Dongjun Li, Xiaoxi Lu, Ju Gao

BMC Pediatr. 2024; 24: 62. Published online 2024 Jan 20. doi: 10.1186/s12887-024-04552-1

PMCID:: PMC10799460

Abstract Article PDF–1.6M

Select item 1098263519.

Homozygous SMAD6 variants in two unrelated patients with craniosynostosis and radioulnar synostosis

Ilse Luyckx, Isaac Scott Walton, Nele Boeckx, Kristof Van Schil, Chingyiu Pang, Mania De Praeter, Helen Lord, Christopher Mark Watson, David T Bonthron, Lut Van Laer, Andrew O M Wilkie, Bart Loeys

J Med Genet. 2024 Apr; 61(4): 363–368. Published online 2024 Jan 30. doi: 10.1136/jmg-2023-109151