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Items: 19


Sacral agenesis: a pilot whole exome sequencing and copy number study.

Porsch RM, Merello E, De Marco P, Cheng G, Rodriguez L, So M, Sham PC, Tam PK, Capra V, Cherny SS, Garcia-Barcelo MM, Campbell DD.

BMC Med Genet. 2016 Dec 22;17(1):98. doi: 10.1186/s12881-016-0359-2.


Effect of Hyperglycemia on Gene Expression during Early Organogenesis in Mice.

Zhao J, Hakvoort TB, Willemsen AM, Jongejan A, Sokolovic M, Bradley EJ, de Boer VC, Baas F, van Kampen AH, Lamers WH.

PLoS One. 2016 Jul 19;11(7):e0158035. doi: 10.1371/journal.pone.0158035.


Sacral agenesis and neurogenic bladder: Long-term outcomes of bladder and kidney function.

Cho PS, Bauer SB, Pennison M, Rosoklija I, Bellows AL, Logvinenko T, Khoshbin S, Borer JG.

J Pediatr Urol. 2016 Jun;12(3):158.e1-7. doi: 10.1016/j.jpurol.2015.12.008.


Primary prevention of neural-tube defects and some other congenital abnormalities by folic acid and multivitamins: history, missed opportunity and tasks.

Czeizel AE, Bártfai Z, Bánhidy F.

Ther Adv Drug Saf. 2011 Aug;2(4):173-88. doi: 10.1177/2042098611411358. Review.


High abrupt cord termination: a hallmark of caudal regression syndrome.

Puneeth KT, Goyal A, Jana M.

BMJ Case Rep. 2014 Jan 28;2014. pii: bcr2013201770. doi: 10.1136/bcr-2013-201770. No abstract available.


Genetic aspects of congenital and idiopathic scoliosis.

Giampietro PF.

Scientifica (Cairo). 2012;2012:152365. doi: 10.6064/2012/152365. Review.


Clinical, genetic and environmental factors associated with congenital vertebral malformations.

Giampietro PF, Raggio CL, Blank RD, McCarty C, Broeckel U, Pickart MA.

Mol Syndromol. 2013 Feb;4(1-2):94-105. doi: 10.1159/000345329.


Analysis of maternal risk factors associated with congenital vertebral malformations.

Hesemann J, Lauer E, Ziska S, Noonan K, Nemeth B, Scott-Schwoerer J, McCarty C, Rasmussen K, Goldberg JM, Sund S, Eickhoff J, Raggio CL, Giampietro PF.

Spine (Phila Pa 1976). 2013 Mar 1;38(5):E293-8. doi: 10.1097/BRS.0b013e318283be6e.


A clinical and experimental overview of sirenomelia: insight into the mechanisms of congenital limb malformations.

Garrido-Allepuz C, Haro E, González-Lamuño D, Martínez-Frías ML, Bertocchini F, Ros MA.

Dis Model Mech. 2011 May;4(3):289-99. doi: 10.1242/dmm.007732. Review.


Diabetes mellitus and birth defects.

Correa A, Gilboa SM, Besser LM, Botto LD, Moore CA, Hobbs CA, Cleves MA, Riehle-Colarusso TJ, Waller DK, Reece EA.

Am J Obstet Gynecol. 2008 Sep;199(3):237.e1-9. doi: 10.1016/j.ajog.2008.06.028.


Prenatal diagnosis of Caudal Regression Syndrome : a case report.

Aslan H, Yanik H, Celikaslan N, Yildirim G, Ceylan Y.

BMC Pregnancy Childbirth. 2001;1(1):8.


A genetic study of the human T gene and its exclusion as a major candidate gene for sacral agenesis with anorectal atresia.

Papapetrou C, Drummond F, Reardon W, Winter R, Spitz L, Edwards YH.

J Med Genet. 1999 Mar;36(3):208-13.


Isolated sacral agenesis in a fetus monosomic for 7q36.1-->qter.

Savage NM, Maclachlan NA, Joyce CA, Moore IE, Crolla JA.

J Med Genet. 1997 Oct;34(10):866-8.


Prognosis for babies born to diabetic mothers in Edinburgh.

Farquhar JW.

Arch Dis Child. 1969 Feb;44(233):36-47. No abstract available.


Lumbosacral agenesis: management and embryological implications.

Ignelzi RJ, Lehman RA.

J Neurol Neurosurg Psychiatry. 1974 Nov;37(11):1273-6.


Teratogenic inborn errors of metabolism.

Leonard JV.

Postgrad Med J. 1986 Feb;62(724):125-9. Review.


The cyclops and the mermaid: an epidemiological study of two types of rare malformation.

Källén B, Castilla EE, Lancaster PA, Mutchinick O, Knudsen LB, Martínez-Frías ML, Mastroiacovo P, Robert E.

J Med Genet. 1992 Jan;29(1):30-5.


Familial caudal regression anomalad and maternal diabetes.

Stewart JM, Stoll S.

J Med Genet. 1979 Feb;16(1):17-20.

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