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Showing results for ISSN matching 0340-6717

Does X-Y pairing during male meiosis protect the paired region of the X chromosome from subsequent X-inactivation?

JOURNAL ARTICLE published May 1985 in Human Genetics

Authors: P. S. Burgoyne | Anne McLaren

https://doi.org/10.1007/bf00389465 Actions

Genetic analysis of adiponectin and obesity in Hispanic families: the IRAS Family Study

JOURNAL ARTICLE published July 2005 in Human Genetics

Authors: Beth S. Sutton | Stefanie Weinert | Carl D. Langefeld | Adrienne H. Williams | Joel K. Campbell | Mohammed F. Saad | Steven M. Haffner | Jill M. Norris | Donald W. Bowden

https://doi.org/10.1007/s00439-005-1260-9 Actions

Mutation screening by a combination of biotin-SSCP and direct sequencing

JOURNAL ARTICLE published March 1994 in Human Genetics

Authors: Amarjit S. Virdi | John A. Loughlin | Catherine M. Irven | Judith Goodship | Bryan C. Sykes

https://doi.org/10.1007/bf00212024 Actions

Quantitative and qualitative assay of amniotic-fluid acetylcholinesterase in the prenatal diagnosis of neural tube defects

JOURNAL ARTICLE published December 1981 in Human Genetics

Authors: Theda Voigtl�nder | Waltraud Friedl | Marion Cremer | W. Schmidt | TrauteM. Schroeder

https://doi.org/10.1007/bf00283669 Actions

Statistical estimation and pedigree analysis ofCCR2-CCR5 haplotypes

JOURNAL ARTICLE published June 2001 in Human Genetics

Authors: Vanessa J. Clark | Noah Metheny | Michael Dean | Raymond J. Peterson

https://doi.org/10.1007/s004390100512 Actions

A diallelic RFLP of the CD3-epsilon chain of the clonotypic T-lymphocyte receptor is not associated with certain autoimmune diseases

JOURNAL ARTICLE published February 1991 in Human Genetics

Authors: Marcos Tim�n | Antonio Arnaiz-Villena | Paloma P�rez-Aciego | Pablo Morales | Djamal Benmamar | Jos�R. Regueiro

https://doi.org/10.1007/bf00201834 Actions

Decoding a highly mixed Kazakh genome

JOURNAL ARTICLE published May 2020 in Human Genetics

Research funded by U-K BRAND Research Fund (1.190007.01) | Ulsan City Research Fund (1.190033.01)

Authors: Madina Seidualy | Asta Blazyte | Sungwon Jeon | Youngjune Bhak | Yeonsu Jeon | Jungeun Kim | Anders Eriksson | Dan Bolser | Changhan Yoon | Andrea Manica | Semin Lee | Jong Bhak

https://doi.org/10.1007/s00439-020-02132-8 Actions

The human pseudoxanthoma elasticum gene ABCC6 is transcriptionally regulated by PLAG family transcription factors

JOURNAL ARTICLE published December 2008 in Human Genetics

Authors: Marcin Ratajewski | Wim J. M. Van de Ven | Grzegorz Bartosz | Lukasz Pulaski

https://doi.org/10.1007/s00439-008-0570-0 Actions

A type II collagen mutation also results in oto-spondylo-megaepiphyseal dysplasia

JOURNAL ARTICLE published November 2005 in Human Genetics

Authors: Yoshinari Miyamoto | Eiji Nakashima | Hisatada Hiraoka | Hirofumi Ohashi | Shiro Ikegawa

https://doi.org/10.1007/s00439-005-0058-0 Actions

Juvenile polyposis: massive gastric polyposis is more common in MADH4 mutation carriers than in BMPR1A mutation carriers

JOURNAL ARTICLE published July 2002 in Human Genetics

Authors: Waltraut Friedl | Siegfried Uhlhaas | Karsten Schulmann | Manfred Stolte | Steffan Loff | Walter Back | Elisabeth Mangold | Martin Stern | Hanns-Peter Knaebel | Christian Sutter | Ruthild G. Weber | Steffen Pistorius | Bettina Burger | Peter Propping

https://doi.org/10.1007/s00439-002-0748-9 Actions

Routine diagnosis of DiGeorge syndrome by fluorescent in situ hybridization

JOURNAL ARTICLE published February 1993 in Human Genetics

Authors: C. Desmaze | P. Scambler | M. Prieur | S. Halford | D. Sidi | F. Le Deist | A. Aurias

https://doi.org/10.1007/bf00202489 Actions

Epimutation in inherited metabolic disorders: the influence of aberrant transcription in adjacent genes

JOURNAL ARTICLE published July 2022 in Human Genetics

Research funded by anr (ANR-15-IDEX-04-LUE) | feder uc (ITM2P)

Authors: Jean-Louis Guéant | Youssef Siblini | Céline Chéry | Guillaume Schmitt | Rosa-Maria Guéant-Rodriguez | David Coelho | David Watkins | David S. Rosenblatt | Abderrahim Oussalah

https://doi.org/10.1007/s00439-021-02414-9 Actions

Combi-CRISPR: combination of NHEJ and HDR provides efficient and precise plasmid-based knock-ins in mice and rats

JOURNAL ARTICLE published February 2021 in Human Genetics

Authors: Kazuto Yoshimi | Yuichiro Oka | Yoshiki Miyasaka | Yuko Kotani | Misato Yasumura | Yoshihiro Uno | Kosuke Hattori | Arisa Tanigawa | Makoto Sato | Manami Oya | Kazuhiro Nakamura | Natsuki Matsushita | Kazuto Kobayashi | Tomoji Mashimo

https://doi.org/10.1007/s00439-020-02198-4 Actions

The RNA world of human ageing

JOURNAL ARTICLE published December 2018 in Human Genetics

Authors: J. C. Gomez-Verjan | E. R. Vazquez-Martinez | N. A. Rivero-Segura | R. H. Medina-Campos

https://doi.org/10.1007/s00439-018-1955-3 Actions

Epidemiological data on Werdnig-Hoffmann disease in Germany (West-Th�ringen)

JOURNAL ARTICLE published April 1993 in Human Genetics

Authors: Andrea Thieme | Beate Mitulla | Friedemann Schulze | AribertW.J. Spiegier

https://doi.org/10.1007/bf00218278 Actions

Assignment of the human ST2 gene to chromosome 2 at q11.2

JOURNAL ARTICLE published May 1996 in Human Genetics

Authors: Shin-ichi Tominaga | Johji Inazawa | Shoji Tsuji

https://doi.org/10.1007/bf02281860 Actions

Detection of a common mutation of the catalase gene in Japanese acatalasemic patients

JOURNAL ARTICLE published March 1992 in Human Genetics

Authors: Yosuke Kishimoto | Yoshinori Murakami | Kenshi Hayashi | Shigeo Takahara | Takashi Sugimura | Takao Sekiya

https://doi.org/10.1007/bf00219333 Actions

A recessive variant in TFAM causes mtDNA depletion associated with primary ovarian insufficiency, seizures, intellectual disability and hearing loss

JOURNAL ARTICLE published December 2021 in Human Genetics

Research funded by National Health and Medical Research Council (1074258,1054432,1062854) | National Institute of Child Health and Human Development (P50-HD028138)

Authors: Farid Ullah | Waqar Rauf | Kamal Khan | Sheraz Khan | Katrina M. Bell | Vanessa Cristina de Oliveira | Muhammad Tariq | Shabnam Bakhshalizadeh | Philippe Touraine | Nicholas Katsanis | Andrew Sinclair | Sijie He | Elena J. Tucker | Shahid M. Baig | Erica E. Davis

https://doi.org/10.1007/s00439-021-02380-2 Actions

Localisation of a gene for Papillon-Lefèvre syndrome to chromosome 11q14-q21 by homozygosity mapping

JOURNAL ARTICLE published 11 December 1997 in Human Genetics

Authors: Martin Walter Laass | Hans Christian Hennies | Sabine Preis | Howard P. Stevens | Martin Jung | Irene M. Leigh | Thomas F. Wienker | André Reis

https://doi.org/10.1007/s004390050645 Actions

Down's syndrome, Edwards' syndrome, Patau's syndrome —synthesis of glycosaminoglycans

JOURNAL ARTICLE published July 1994 in Human Genetics

Authors: Valery Kukharenko | Svetlana Sheleg | Mikhail Freudine | Elena Pichugina | Alexander Delvig

https://doi.org/10.1007/bf02272847 Actions
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