Etiology
Nagasaka H,
Morioka I,
Takuwa M,
Nakacho M,
Yoshida M,
Ishida A,
Hirayama S,
Miida T,
Tsukahara H,
Yorifuji T,
Iijima K
J Int Med Res
2018 Feb;46(2):761-772.
Epub 2017 Oct 4
doi: 10.1177/0300060517723183.
PMID: 28974136Free PMC Article
Abell K,
May W,
May PA,
Kalberg W,
Hoyme HE,
Robinson LK,
Manning M,
Jones KL,
Abdul-Rahman O
Am J Med Genet A
2016 Jul;170(7):1763-71.
Epub 2016 Jun 2
doi: 10.1002/ajmg.a.37656.
PMID: 27253440
Langen J,
Kayacelebi AA,
Beckmann B,
Weigt-Usinger K,
Carmann C,
Hörster I,
Lilienthal E,
Richter-Unruh A,
Tsikas D,
Lücke T
Amino Acids
2015 Sep;47(9):1875-83.
Epub 2015 Jun 28
doi: 10.1007/s00726-015-2028-8.
PMID: 26123987
Dall'oca C,
Bondi M,
Merlini M,
Cipolli M,
Lavini F,
Bartolozzi P
Musculoskelet Surg
2012 Aug;96(2):81-8.
Epub 2011 Dec 27
doi: 10.1007/s12306-011-0174-z.
PMID: 22201042
Halliday HL
Best Pract Res Clin Obstet Gynaecol
2009 Dec;23(6):871-80.
Epub 2009 Jul 26
doi: 10.1016/j.bpobgyn.2009.06.005.
PMID: 19632899
Diagnosis
Reis LM,
Costakos D,
Wheeler PG,
Bardakjian T,
Schneider A,
Fung SSM;
University of Washington Center for Mendelian Genomics,
Semina EV
Clin Genet
2021 Mar;99(3):437-442.
Epub 2020 Dec 16
doi: 10.1111/cge.13897.
PMID: 33314030Free PMC Article
Nagasaka H,
Morioka I,
Takuwa M,
Nakacho M,
Yoshida M,
Ishida A,
Hirayama S,
Miida T,
Tsukahara H,
Yorifuji T,
Iijima K
J Int Med Res
2018 Feb;46(2):761-772.
Epub 2017 Oct 4
doi: 10.1177/0300060517723183.
PMID: 28974136Free PMC Article
Abell K,
May W,
May PA,
Kalberg W,
Hoyme HE,
Robinson LK,
Manning M,
Jones KL,
Abdul-Rahman O
Am J Med Genet A
2016 Jul;170(7):1763-71.
Epub 2016 Jun 2
doi: 10.1002/ajmg.a.37656.
PMID: 27253440
Langen J,
Kayacelebi AA,
Beckmann B,
Weigt-Usinger K,
Carmann C,
Hörster I,
Lilienthal E,
Richter-Unruh A,
Tsikas D,
Lücke T
Amino Acids
2015 Sep;47(9):1875-83.
Epub 2015 Jun 28
doi: 10.1007/s00726-015-2028-8.
PMID: 26123987
Lewis DW
Am J Dis Child
1992 Dec;146(12):1403-7.
doi: 10.1001/archpedi.1992.02160240013002.
PMID: 1340779
Therapy
Nagasaka H,
Morioka I,
Takuwa M,
Nakacho M,
Yoshida M,
Ishida A,
Hirayama S,
Miida T,
Tsukahara H,
Yorifuji T,
Iijima K
J Int Med Res
2018 Feb;46(2):761-772.
Epub 2017 Oct 4
doi: 10.1177/0300060517723183.
PMID: 28974136Free PMC Article
Abell K,
May W,
May PA,
Kalberg W,
Hoyme HE,
Robinson LK,
Manning M,
Jones KL,
Abdul-Rahman O
Am J Med Genet A
2016 Jul;170(7):1763-71.
Epub 2016 Jun 2
doi: 10.1002/ajmg.a.37656.
PMID: 27253440
Langen J,
Kayacelebi AA,
Beckmann B,
Weigt-Usinger K,
Carmann C,
Hörster I,
Lilienthal E,
Richter-Unruh A,
Tsikas D,
Lücke T
Amino Acids
2015 Sep;47(9):1875-83.
Epub 2015 Jun 28
doi: 10.1007/s00726-015-2028-8.
PMID: 26123987
Dall'oca C,
Bondi M,
Merlini M,
Cipolli M,
Lavini F,
Bartolozzi P
Musculoskelet Surg
2012 Aug;96(2):81-8.
Epub 2011 Dec 27
doi: 10.1007/s12306-011-0174-z.
PMID: 22201042
Halliday HL
Best Pract Res Clin Obstet Gynaecol
2009 Dec;23(6):871-80.
Epub 2009 Jul 26
doi: 10.1016/j.bpobgyn.2009.06.005.
PMID: 19632899
Prognosis
Abell SK,
Shorakae S,
Harrison CL,
Hiam D,
Moreno-Asso A,
Stepto NK,
De Courten B,
Teede HJ
Diabetes Metab Res Rev
2017 Nov;33(8)
Epub 2017 Sep 15
doi: 10.1002/dmrr.2926.
PMID: 28806491
Pan CY,
Lan TH,
Chou ST,
Tseng YC,
Chang JZ,
Chang HP
J Formos Med Assoc
2013 Dec;112(12):801-6.
Epub 2012 Sep 5
doi: 10.1016/j.jfma.2012.07.021.
PMID: 24331110
Gerkes EH,
Hordijk R,
Dijkhuizen T,
Sival DA,
Meiners LC,
Sikkema-Raddatz B,
van Ravenswaaij-Arts CM
Eur J Med Genet
2010 Sep-Oct;53(5):344-6.
Epub 2010 May 27
doi: 10.1016/j.ejmg.2010.05.003.
PMID: 20553986
Halliday HL
Best Pract Res Clin Obstet Gynaecol
2009 Dec;23(6):871-80.
Epub 2009 Jul 26
doi: 10.1016/j.bpobgyn.2009.06.005.
PMID: 19632899
Dominici N,
Daprati E,
Nico D,
Cappellini G,
Ivanenko YP,
Lacquaniti F
J Neurophysiol
2009 Mar;101(3):1419-29.
Epub 2008 Dec 17
doi: 10.1152/jn.91165.2008.
PMID: 19091916
Clinical prediction guides
Reis LM,
Costakos D,
Wheeler PG,
Bardakjian T,
Schneider A,
Fung SSM;
University of Washington Center for Mendelian Genomics,
Semina EV
Clin Genet
2021 Mar;99(3):437-442.
Epub 2020 Dec 16
doi: 10.1111/cge.13897.
PMID: 33314030Free PMC Article
Brusa J,
Maggio MC,
Giustino V,
Thomas E,
Zangla D,
Iovane A,
Palma A,
Corsello G,
Messina G,
Bellafiore M
Int J Environ Res Public Health
2020 Jul 4;17(13)
doi: 10.3390/ijerph17134830.
PMID: 32635579Free PMC Article
Abell SK,
Shorakae S,
Harrison CL,
Hiam D,
Moreno-Asso A,
Stepto NK,
De Courten B,
Teede HJ
Diabetes Metab Res Rev
2017 Nov;33(8)
Epub 2017 Sep 15
doi: 10.1002/dmrr.2926.
PMID: 28806491
Suda N,
Hattori M,
Kosaki K,
Banshodani A,
Kozai K,
Tanimoto K,
Moriyama K
Orthod Craniofac Res
2010 Nov;13(4):197-202.
doi: 10.1111/j.1601-6343.2010.01495.x.
PMID: 21040462
Halliday HL
Best Pract Res Clin Obstet Gynaecol
2009 Dec;23(6):871-80.
Epub 2009 Jul 26
doi: 10.1016/j.bpobgyn.2009.06.005.
PMID: 19632899