2021

The acrocentric part of der(Y)t(Y;acro)(q12;p1?2) contains D15Z1 sequences in the majority of cases
Fuchs S, Lisfeld J, Kankel S, Person L, Liehr T
HUM GENOME VAR. 2021;8(1):.

2020

Microphthalmia with linear skin defects syndrome associated with hypopigmented mosaic lesions and ptosis: two siblings from Africa
Chateau A, Kutsche K, Fuchs S, Harms F, Kruse C, Mosam A
INT J DERMATOL. 2020;59(7):864-866.

Biallelic loss-of-function variants in TBC1D2B cause a neurodevelopmental disorder with seizures and gingival overgrowth
Harms F, Parthasarathy P, Zorndt D, Alawi M, Fuchs S, Halliday B, McKeown C, Sampaio H, Radhakrishnan N, Radhakrishnan S, Gorce M, Navet B, Ziegler A, Sachdev R, Robertson S, Nampoothiri S, Kutsche K
HUM MUTAT. 2020;41(9):1645-1661.

The H-Y Antigen in Embryonic Stem Cells Causes Rejection in Syngeneic Female Recipients
Hu X, Kueppers S, Kooreman N, Gravina A, Wang D, Tediashvili G, Schlickeiser S, Frentsch M, Nikolaou C, Thiel A, Marcus S, Fuchs S, Velden J, Reichenspurner H, Volk H, Deuse T, Schrepfer S
STEM CELLS DEV. 2020;29(18):1179-1189.

Two novel cases further expand the phenotype of TOR1AIP1-associated nuclear envelopathies
Lessel I, Chen M, Lüttgen S, Arndt F, Fuchs S, Meien S, Thiele H, Jones J, Shaw B, Crossman D, Nürnberg P, Korf B, Kubisch C, Lessel D
HUM GENET. 2020;139(4):483-498.

Roberts syndrome in an Indian patient with humeroradial synostosis, congenital elbow contractures and a novel homozygous splice variant in ESCO2
Schneeberger P, Nayak S, Fuchs S, Kutsche K, Girisha K
AM J MED GENET A. 2020;182(11):2793-2796.

Cell Banking of hiPSCs: A Practical Guide to Cryopreservation and Quality Control in Basic Research
Shibamiya A, Schulze E, Krauß D, Augustin C, Reinsch M, Schulze M, Steuck S, Mearini G, Mannhardt I, Schulze T, Klampe B, Werner T, Saleem U, Knaust A, Laufer S, Neuber C, Lemme M, Behrens C, Loos M, Weinberger F, Fuchs S, Eschenhagen T, Hansen A, Ulmer B
Current protocols in stem cell biology. 2020;55(1):e127.

Novel pericentric inversion inv(9)(p23q22.3) in unrelated individuals with fertility problems in the Southeast European population
Sismani C, Rapti S, Iliopoulou P, Spring A, Neroutsou R, Lagou M, Robola M, Tsitsopoulos E, Kousoulidou L, Alexandrou A, Papaevripidou I, Theodosiou A, Syrrou M, Fuchs S, Hempel M, Huhle D, Liehr T, Ziegler M, Duesberg M, Velissariou V
J HUM GENET. 2020;65(9):783-795.

2018

Immortalization of common marmoset monkey fibroblasts by piggyBac transposition of hTERT
Petkov S, Kahland T, Shomroni O, Lingner T, Salinas G, Fuchs S, Debowski K, Behr R
PLOS ONE. 2018;13(9):e0204580.

2017

Differentiation of cardiomyocytes and generation of human engineered heart tissue
Breckwoldt K, Letuffe-Brenière D, Mannhardt I, Schulze T, Ulmer B, Werner T, Benzin A, Klampe B, Reinsch M, Laufer S, Shibamiya A, Prondzynski M, Mearini G, Schade D, Fuchs S, Neuber C, Krämer E, Saleem U, Schulze M, Rodriguez M, Eschenhagen T, Hansen A
NAT PROTOC. 2017;12(6):1177-1197.

Functional monosomy of 6q27-qter and functional disomy of Xpter-p22.11 due to X;6 translocation with an atypical X-inactivation pattern
Podolska A, Kobelt A, Fuchs S, Hackmann K, Rump A, Schröck E, Kutsche K, Di Donato N
AM J MED GENET A. 2017;173(5):1334-1341.

2016

The transcriptomes of novel marmoset monkey embryonic stem cell lines reflect distinct genomic features
Debowski K, Drummer C, Lentes J, Cors M, Dressel R, Lingner T, Salinas-Riester G, Fuchs S, Sasaki E, Behr R
SCI REP-UK. 2016;6:29122.

2015

De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment
Hempel M, Cremer K, Ockeloen C, Lichtenbelt K, Herkert J, Denecke J, Haack T, Zink A, Becker J, Wohlleber E, Johannsen J, Alhaddad B, Pfundt R, Fuchs S, Wieczorek D, Strom T, van Gassen K, Kleefstra T, Kubisch C, Engels H, Lessel D
AM J HUM GENET. 2015;97(3):493-500.

2014

Clinical spectrum of females with HCCS Mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome
van Rahden V, Rau I, Fuchs S, Kosyna F, de Almeida H, Fryssira H, Isidor B, Jauch A, Joubert M, Lachmeijer A, Zweier C, Moog U, Kutsche K
ORPHANET J RARE DIS. 2014;9(1):53.

2013

Parthenogenetic stem cells for tissue-engineered heart repair
Didié M, Christalla P, Rubart M, Muppala V, Döker S, Unsöld B, El-Armouche A, Rau T, Eschenhagen T, Schwoerer A, Ehmke H, Schumacher U, Fuchs S, Lange C, Becker A, Tao W, Scherschel J, Soonpaa M, Yang T, Lin Q, Zenke M, Han D, Schöler H, Rudolph C, Steinemann D, Schlegelberger B, Kattman S, Witty A, Keller G, Field L, Zimmermann W
J CLIN INVEST. 2013;123(3):1285-98.

Microduplication of 3p26.3 in nonsyndromic intellectual disability indicates an important role of CHL1 for normal cognitive function
Shoukier M, Fuchs S, Schwaibold E, Lingen M, Gärtner J, Brockmann K, Zirn B
NEUROPEDIATRICS. 2013;44(5):268-71.

Letzte Aktualisierung aus dem FIS: 23.11.2024 - 03:42 Uhr