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Showing 51–78 of 78 results

Advanced filters: Author: M Platzer Clear advanced filters

Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia

Alison M. Muir
Jennifer F. Gardner
Heather C. Mefford
Research20 Jan 2021
Genetics in Medicine

Volume: 23, P: 881-887
Constitutive production of multiple cytokines and a human chorionic gonadotrophin beta-subunit by a human bladder cancer cell line (KU-19-19): possible demonstration of totipotential differentiation

M Tachibana
A Miyakawa
J-I Hata
Research01 Jul 1997
British Journal of Cancer

Volume: 76, P: 163-174
Effects of recombinant leukocyte interferon (rIFN-α A) on tumour growth and immune responses in patients with metastatic melanoma

P Hersey
E Hasic
W H McCarthy
Research01 Jun 1985
British Journal of Cancer

Volume: 51, P: 815-826
CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants

Yuri A. Zarate
Tomoko Uehara
Kenjiro Kosaki
Research25 Jan 2021
Genetics in Medicine

Volume: 23, P: 1050-1057
Tumour necrosis factor- α and transforming growth factor- β are significantly associated with better prognosis in non-small cell lung carcinoma: putative relation with BCL-2-mediated neovascularization

L Boldrini
A Calcinai
G Fontanini
ResearchOpen Access25 Jul 2000
British Journal of Cancer

Volume: 83, P: 480-486
Potentiation of the anti-tumour effects of Photofrin®-based photodynamic therapy by localized treatment with G-CSF

J Goląb
G Wilczyński
M Jakóbisiak
ResearchOpen Access21 Mar 2000
British Journal of Cancer

Volume: 82, P: 1485-1491
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses

German Demidov
Burcu Yaldiz
Steven Laurie
ResearchOpen Access26 Oct 2024
npj Genomic Medicine

Volume: 9, P: 1-24
Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies

Gabriel C. Dworschak
Jaya Punetha
Heiko Reutter
ResearchOpen Access30 May 2021
Genetics in Medicine

Volume: 23, P: 1715-1725
Granulocyte colony-stimulating factor (G-CSF) transiently suppresses mitogen-stimulated T-cell proliferative response

E Reyes
I García-Castro
M Alvarez-Mon
ResearchOpen Access26 Mar 1999
British Journal of Cancer

Volume: 80, P: 229-235
Genomic profiling of bone and soft tissue tumors with supernumerary ring chromosomes using tiling resolution bacterial artificial chromosome microarrays

M Heidenblad
K H Hallor
N Mandahl
Research29 May 2006
Oncogene

Volume: 25, P: 7106-7116
Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11

Thomas A. Ravenscroft
Jennifer B. Phillips
Hugo J. Bellen
Research10 Jun 2021
Genetics in Medicine

Volume: 23, P: 1889-1900
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

Lance H. Rodan
Rebecca C. Spillmann
Vandana Shashi
Research23 Jun 2021
Genetics in Medicine

Volume: 23, P: 1922-1932
Response to the Commentary on “Anatomic considerations of inflatable penile prosthetics: lessons gleaned from surgical body donor workshops”

D. Osmonov
S. K. Wilson
T. Wedel
Comments & Opinion02 Nov 2023
International Journal of Impotence Research

Volume: 36, P: 549-550
A distinct molecular profile associated with mucinous epithelial ovarian cancer

V A Heinzelmann-Schwarz
M Gardiner-Garden
P M O'Brien
ResearchOpen Access28 Feb 2006
British Journal of Cancer

Volume: 94, P: 904-913
Mosaics of gene variations in the Interleukin-10 gene promoter affect interleukin-10 production depending on the stimulation used

M Mörmann
H Rieth
D Kube
Research29 Apr 2004
Genes & Immunity

Volume: 5, P: 246-255
A framework for evaluating geographic disparities in energy transition vulnerability

Positive and negative impacts of energy transitions will not be evenly distributed. In this Perspective, the authors present a framework to map geographic variation in vulnerability from energy policies that can be built on in future work to support just policy-making.

Sanya Carley
Tom P. Evans
David M. Konisky
Reviews07 May 2018
Nature Energy

Volume: 3, P: 621-627
The role of human demographic history in determining the distribution and frequency of transferase-deficient galactosaemia mutations

J M Flanagan
G McMahon
D T Croke
Research29 Jul 2009
Heredity

Volume: 104, P: 148-154
CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum

Enrico D. H. Konrad
Niels Nardini
Christiane Zweier
ResearchOpen Access26 Jun 2019
Genetics in Medicine

Volume: 21, P: 2723-2733
Initial sequencing and analysis of the human genome

Eric S. Lander
Lauren M. Linton
Michael J. Morgan
articles01 Feb 2001
Nature

Volume: 409, P: 860-921
Integrated genomic profiling identifies two distinct molecular subtypes with divergent outcome in neuroblastoma with loss of chromosome 11q

M Fischer
T Bauer
F Berthold
Research09 Nov 2009
Oncogene

Volume: 29, P: 865-875
Comparative research in leukemia and related diseases. An introduction to a scientific approach

R Hehlmann
M Essex
Reviews15 Jun 1999
Leukemia

Volume: 13, P: S19-S28
New insights into the imprinted MEG8-DMR in 14q32 and clinical and molecular description of novel patients with Temple syndrome

Jasmin Beygo
Alma Küchler
Karin Buiting
Research21 Jun 2017
European Journal of Human Genetics

Volume: 25, P: 935-945
Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals

Dana E. Layo-Carris
Emily E. Lubin
Laura M. Bryant
Amendments and CorrectionsOpen Access26 Jul 2024
European Journal of Human Genetics

Volume: 32, P: 1032
Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy

Chiara Klöckner
Heinrich Sticht
Konrad Platzer
Amendments and Corrections08 Mar 2021
Genetics in Medicine

Volume: 23, P: 796
Mhc class I haplotypes associated with survival time in simian immunodeficiency virus (SIV)-infected rhesus macaques

U Sauermann
R Siddiqui
M Krawczak
Research20 Dec 2007
Genes & Immunity

Volume: 9, P: 69-80
Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

Lance H. Rodan
Rebecca C. Spillmann
Vandana Shashi
Amendments and Corrections14 Sept 2021
Genetics in Medicine

Volume: 23, P: 2016
Both copy number and sequence variations affect expression of human DEFB4

M Groth
C Wiegand
M Platzer
Research06 May 2010
Genes & Immunity

Volume: 11, P: 458-466
Evaluation of AGR2 and AGR3 as candidate genes for inflammatory bowel disease

W Zheng
P Rosenstiel
J Hampe
Research13 Oct 2005
Genes & Immunity

Volume: 7, P: 11-18

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Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia

Constitutive production of multiple cytokines and a human chorionic gonadotrophin beta-subunit by a human bladder cancer cell line (KU-19-19): possible demonstration of totipotential differentiation

Effects of recombinant leukocyte interferon (rIFN-α A) on tumour growth and immune responses in patients with metastatic melanoma

CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants

Tumour necrosis factor- α and transforming growth factor- β are significantly associated with better prognosis in non-small cell lung carcinoma: putative relation with BCL-2-mediated neovascularization

Potentiation of the anti-tumour effects of Photofrin®-based photodynamic therapy by localized treatment with G-CSF

Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses

Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies

Granulocyte colony-stimulating factor (G-CSF) transiently suppresses mitogen-stimulated T-cell proliferative response

Genomic profiling of bone and soft tissue tumors with supernumerary ring chromosomes using tiling resolution bacterial artificial chromosome microarrays

Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

Response to the Commentary on “Anatomic considerations of inflatable penile prosthetics: lessons gleaned from surgical body donor workshops”

A distinct molecular profile associated with mucinous epithelial ovarian cancer

Mosaics of gene variations in the Interleukin-10 gene promoter affect interleukin-10 production depending on the stimulation used

A framework for evaluating geographic disparities in energy transition vulnerability

The role of human demographic history in determining the distribution and frequency of transferase-deficient galactosaemia mutations

CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum

Initial sequencing and analysis of the human genome

Integrated genomic profiling identifies two distinct molecular subtypes with divergent outcome in neuroblastoma with loss of chromosome 11q

Comparative research in leukemia and related diseases. An introduction to a scientific approach

New insights into the imprinted MEG8-DMR in 14q32 and clinical and molecular description of novel patients with Temple syndrome

Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals

Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy

Mhc class I haplotypes associated with survival time in simian immunodeficiency virus (SIV)-infected rhesus macaques

Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

Both copy number and sequence variations affect expression of human DEFB4

Evaluation of AGR2 and AGR3 as candidate genes for inflammatory bowel disease

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