Pfeiffer L - Search Results

1

Shprintzen-Goldberg syndrome: fourteen new patients and a clinical analysis.

Robinson PN, Neumann LM, Demuth S, Enders H, Jung U, König R, Mitulla B, Müller D, Muschke P, Pfeiffer L, Prager B, Somer M, Tinschert S. Robinson PN, et al. Among authors: pfeiffer l. Am J Med Genet A. 2005 Jun 15;135(3):251-62. doi: 10.1002/ajmg.a.30431. Am J Med Genet A. 2005. PMID: 15884042

2

The Kabuki (Niikawa-Kuroki) syndrome: further delineation of the phenotype in 29 non-Japanese patients.

Schrander-Stumpel C, Meinecke P, Wilson G, Gillessen-Kaesbach G, Tinschert S, König R, Philip N, Rizzo R, Schrander J, Pfeiffer L, et al. Schrander-Stumpel C, et al. Among authors: pfeiffer l. Eur J Pediatr. 1994 Jun;153(6):438-45. doi: 10.1007/BF01983409. Eur J Pediatr. 1994. PMID: 8088300

3

Chromosome deletions in 13q33-34: report of four patients and review of the literature.

Walczak-Sztulpa J, Wisniewska M, Latos-Bielenska A, Linné M, Kelbova C, Belitz B, Pfeiffer L, Kalscheuer V, Erdogan F, Kuss AW, Ropers HH, Ullmann R, Tzschach A. Walczak-Sztulpa J, et al. Among authors: pfeiffer l. Am J Med Genet A. 2008 Feb 1;146A(3):337-42. doi: 10.1002/ajmg.a.32127. Am J Med Genet A. 2008. PMID: 18203171 Review.

4

Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes.

Parenti I, Teresa-Rodrigo ME, Pozojevic J, Ruiz Gil S, Bader I, Braunholz D, Bramswig NC, Gervasini C, Larizza L, Pfeiffer L, Ozkinay F, Ramos F, Reiz B, Rittinger O, Strom TM, Watrin E, Wendt K, Wieczorek D, Wollnik B, Baquero-Montoya C, Pié J, Deardorff MA, Gillessen-Kaesbach G, Kaiser FJ. Parenti I, et al. Among authors: pfeiffer l. Hum Genet. 2017 Mar;136(3):307-320. doi: 10.1007/s00439-017-1758-y. Epub 2017 Jan 24. Hum Genet. 2017. PMID: 28120103

5

[Clinico-genetic diagnosis of ataxia telangiectatica (Louis-Bar syndrome)].

Fuhrmann E, Pfeiffer L, Zschenderlein R, Leonhardt T, Melster U, Kölmel HW. Fuhrmann E, et al. Among authors: pfeiffer l. Nervenarzt. 1993 Feb;64(2):140-2. Nervenarzt. 1993. PMID: 8450897 German.

6

Prenatal diagnosis and molecular cytogenetic characterization of an unusual complex structural rearrangement in a pregnancy following intracytoplasmic sperm injection (ICSI).

Trimborn M, Liehr T, Belitz B, Pfeiffer L, Varon R, Neitzel H, Tönnies H. Trimborn M, et al. Among authors: pfeiffer l. J Histochem Cytochem. 2005 Mar;53(3):351-4. doi: 10.1369/jhc.4B6412.2005. J Histochem Cytochem. 2005. PMID: 15750017

7

Segmental haplosufficiency: transmitted deletions of 2p12 include a pancreatic regeneration gene cluster and have no apparent phenotypic consequences.

Barber JC, Thomas NS, Collinson MN, Dennis NR, Liehr T, Weise A, Belitz B, Pfeiffer L, Kirchhoff M, Krag-Olsen B, Lundsteen C. Barber JC, et al. Among authors: pfeiffer l. Eur J Hum Genet. 2005 Mar;13(3):283-91. doi: 10.1038/sj.ejhg.5201267. Eur J Hum Genet. 2005. PMID: 15657610

8

[New knowledge of the etiology and pathogenesis of Huntington chorea].

Meierkord H, Pfeiffer L, Ludolph A. Meierkord H, et al. Among authors: pfeiffer l. Nervenarzt. 1994 Aug;65(8):519-26. Nervenarzt. 1994. PMID: 7969648 Review. German.

9

Unusual deletion of the maternal 11p15 allele in Beckwith-Wiedemann syndrome with an impact on both imprinting domains.

Eggermann T, Begemann M, Pfeiffer L. Eggermann T, et al. Among authors: pfeiffer l. Clin Epigenetics. 2021 Feb 4;13(1):30. doi: 10.1186/s13148-021-01020-w. Clin Epigenetics. 2021. PMID: 33541417 Free PMC article.

10

Decreased N-acetyl-aspartate/choline ratio and increased lactate in the frontal lobe of patients with Huntington's disease: a proton magnetic resonance spectroscopy study.

Harms L, Meierkord H, Timm G, Pfeiffer L, Ludolph AC. Harms L, et al. Among authors: pfeiffer l. J Neurol Neurosurg Psychiatry. 1997 Jan;62(1):27-30. doi: 10.1136/jnnp.62.1.27. J Neurol Neurosurg Psychiatry. 1997. PMID: 9010396 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

485 results

Search Page