PubMed for id: 903881

Year	Number of Results
1997	1
1998	1
2002	1
2004	1
2013	1
2014	1
2018	2
2019	1
2024	0

1

GPR126: A novel candidate gene implicated in autosomal recessive intellectual disability.

Hosseini M, Fattahi Z, Abedini SS, Hu H, Ropers HH, Kalscheuer VM, Najmabadi H, Kahrizi K. Hosseini M, et al. Am J Med Genet A. 2019 Jan;179(1):13-19. doi: 10.1002/ajmg.a.40531. Epub 2018 Dec 14. Am J Med Genet A. 2019. PMID: 30549416

2

Absence of Axoglial Paranodal Junctions in a Child With CNTNAP1 Mutations, Hypomyelination, and Arthrogryposis.

Conant A, Curiel J, Pizzino A, Sabetrasekh P, Murphy J, Bloom M, Evans SH, Helman G, Taft RJ, Simons C, Whitehead MT, Moore SA, Vanderver A. Conant A, et al. J Child Neurol. 2018 Sep;33(10):642-650. doi: 10.1177/0883073818776157. Epub 2018 Jun 8. J Child Neurol. 2018. PMID: 29882456 Free PMC article.

3

New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update.

Navarro CL, Esteves-Vieira V, Courrier S, Boyer A, Duong Nguyen T, Huong le TT, Meinke P, Schröder W, Cormier-Daire V, Sznajer Y, Amor DJ, Lagerstedt K, Biervliet M, van den Akker PC, Cau P, Roll P, Lévy N, Badens C, Wehnert M, De Sandre-Giovannoli A. Navarro CL, et al. Eur J Hum Genet. 2014 Aug;22(8):1002-11. doi: 10.1038/ejhg.2013.258. Epub 2013 Oct 30. Eur J Hum Genet. 2014. PMID: 24169522 Free PMC article.

4

Homozygosity mapping of lethal congenital contractural syndrome type 2 (LCCS2) to a 6 cM interval on chromosome 12q13.

Narkis G, Landau D, Manor E, Elbedour K, Tzemach A, Fishelson M, Geiger D, Ofir R, Carmi R, Birk OS. Narkis G, et al. Am J Med Genet A. 2004 Oct 15;130A(3):272-6. doi: 10.1002/ajmg.a.30266. Am J Med Genet A. 2004. PMID: 15378541

5

Severe spinal muscular atrophy variant associated with congenital bone fractures.

Felderhoff-Mueser U, Grohmann K, Harder A, Stadelmann C, Zerres K, Bührer C, Obladen M. Felderhoff-Mueser U, et al. J Child Neurol. 2002 Sep;17(9):718-21. doi: 10.1177/088307380201700915. J Child Neurol. 2002. PMID: 12503654

6

Assignment of the disease locus for lethal congenital contracture syndrome to a restricted region of chromosome 9q34, by genome scan using five affected individuals.

Mäkelä-Bengs P, Järvinen N, Vuopala K, Suomalainen A, Ignatius J, Sipilä M, Herva R, Palotie A, Peltonen L. Mäkelä-Bengs P, et al. Am J Hum Genet. 1998 Aug;63(2):506-16. doi: 10.1086/301968. Am J Hum Genet. 1998. PMID: 9683599 Free PMC article.

7

Restrictive dermopathy: report and review.

Mau U, Kendziorra H, Kaiser P, Enders H. Mau U, et al. Am J Med Genet. 1997 Aug 8;71(2):179-85. doi: 10.1002/(sici)1096-8628(19970808)71:2<179::aid-ajmg11>3.0.co;2-b. Am J Med Genet. 1997. PMID: 9217218 Review.

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