Pfeiffer L - Search Results

1

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

2

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

3

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

4

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.

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

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.

7

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

8

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

9

[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.

10

Trio exome sequencing is highly relevant in prenatal diagnostics.

Gabriel H, Korinth D, Ritthaler M, Schulte B, Battke F, von Kaisenberg C, Wüstemann M, Schulze B, Friedrich-Freksa A, Pfeiffer L, Entezami M, Schröer A, Bürger J, Schwaibold EMC, Lebek H, Biskup S. Gabriel H, et al. Among authors: pfeiffer l. Prenat Diagn. 2022 Jun;42(7):845-851. doi: 10.1002/pd.6081. Epub 2021 Dec 27. Prenat Diagn. 2022. PMID: 34958143 Free PMC article.

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