Schreiner F - Search Results

1

Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes.

Mihaylova V, Müller JS, Vilchez JJ, Salih MA, Kabiraj MM, D'Amico A, Bertini E, Wölfle J, Schreiner F, Kurlemann G, Rasic VM, Siskova D, Colomer J, Herczegfalvi A, Fabriciova K, Weschke B, Scola R, Hoellen F, Schara U, Abicht A, Lochmüller H. Mihaylova V, et al. Among authors: schreiner f. Brain. 2008 Mar;131(Pt 3):747-59. doi: 10.1093/brain/awm325. Epub 2008 Jan 7. Brain. 2008. PMID: 18180250

2

Novel COLQ mutation 950delC in synaptic congenital myasthenic syndrome and symptomatic heterozygous relatives.

Schreiner F, Hoppenz M, Klaeren R, Reimann J, Woelfle J. Schreiner F, et al. Neuromuscul Disord. 2007 Mar;17(3):262-5. doi: 10.1016/j.nmd.2006.11.010. Epub 2007 Feb 14. Neuromuscul Disord. 2007. PMID: 17300939

3

Birthweight Differences in Monozygotic Twins Influence Pubertal Maturation and Near Final Height.

Schulte S, Wölfle J, Schreiner F, Stoffel-Wagner B, Peter M, Bartmann P, Gohlke B. Schulte S, et al. Among authors: schreiner f. J Pediatr. 2016 Mar;170:288-94.e1-2. doi: 10.1016/j.jpeds.2015.12.020. Epub 2016 Jan 12. J Pediatr. 2016. PMID: 26794471

4

A novel mutation of the StAR gene with congenital adrenal hyperplasia and its association with heterochromia iridis: a case report.

Splittstösser V, Schreiner F, Gohlke B, Welzel M, Holterhus PM, Woelfle J. Splittstösser V, et al. Among authors: schreiner f. BMC Endocr Disord. 2019 Oct 30;19(1):116. doi: 10.1186/s12902-019-0448-2. BMC Endocr Disord. 2019. PMID: 31666050 Free PMC article.

5

Novel acid-labile subunit ( IGFALS ) mutation p.T145K (c.434C>A) in a patient with ALS deficiency, normal stature and immunological dysfunction.

Schreiner F, Schoenberger S, Koester B, Domené HM, Woelfle J. Schreiner F, et al. Horm Res Paediatr. 2013;80(6):424-30. doi: 10.1159/000355927. Epub 2013 Nov 27. Horm Res Paediatr. 2013. PMID: 24296365

6

False negative 17-hydroxyprogesterone screening in children with classical congenital adrenal hyperplasia.

Schreiner F, Brack C, Salzgeber K, Vorhoff W, Woelfle J, Gohlke B. Schreiner F, et al. Eur J Pediatr. 2008 Apr;167(4):479-81. doi: 10.1007/s00431-007-0505-0. Epub 2007 May 22. Eur J Pediatr. 2008. PMID: 17516082

7

Growth hormone receptor d3-variant, insulin-like growth factor binding protein-1 -575G/A polymorphism and postnatal catch-up growth: association with parameters of glucose homeostasis in former extremely low birth weight preterm infants.

Schreiner F, Gohlke B, Stutte S, Bartmann P, Woelfle J. Schreiner F, et al. Growth Horm IGF Res. 2010 Jun;20(3):201-4. doi: 10.1016/j.ghir.2010.01.002. Epub 2010 Feb 9. Growth Horm IGF Res. 2010. PMID: 20149700

8

Phenotype-Driven Diagnostic of PTEN Hamartoma Tumor Syndrome: Macrocephaly, But Neither Height nor Weight Development, Is the Important Trait in Children.

Plamper M, Gohlke B, Schreiner F, Woelfle J. Plamper M, et al. Among authors: schreiner f. Cancers (Basel). 2019 Jul 11;11(7):975. doi: 10.3390/cancers11070975. Cancers (Basel). 2019. PMID: 31336731 Free PMC article.

9

Association of the growth hormone receptor d3-variant and catch-up growth of preterm infants with birth weight of less than 1500 grams.

Schreiner F, Stutte S, Bartmann P, Gohlke B, Woelfle J. Schreiner F, et al. J Clin Endocrinol Metab. 2007 Nov;92(11):4489-93. doi: 10.1210/jc.2007-0956. Epub 2007 Aug 21. J Clin Endocrinol Metab. 2007. PMID: 17711923

10

Functional glucocorticoid receptor gene variants do not underlie the high variability of 17-hydroxyprogesterone screening values in healthy newborns.

Schreiner F, Tozakidou M, Maslak R, Holtkamp U, Peter M, Gohlke B, Woelfle J. Schreiner F, et al. Eur J Endocrinol. 2009 Apr;160(4):667-73. doi: 10.1530/EJE-08-0639. Epub 2009 Jan 27. Eur J Endocrinol. 2009. PMID: 19174530

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