Works matching AU Häfliger, Irene M.

Results: 37

Identification of a de novo missense variant in the BRI3BP gene in a Holstein calf with congenital cardiac malformation and carpus valgus.

Published in:

Animal Genetics, 2025, v. 56, n. 1, p. 1, doi. 10.1111/age.13494

By:

He, Chang;
Grau‐Roma, Llorenç;
Schmid, Robin;
Häfliger, Irene M.;
Meylan, Mireille;
Drögemüller, Cord;
Jacinto, Joana G. P.

Publication type:

Article

Trisomy 26 in a Holstein calf with disorders of sex development.

Published in:

Animal Genetics, 2025, v. 56, n. 1, p. 1, doi. 10.1111/age.13489

By:

Freick, Markus;
Jacinto, Joana G. P.;
Häfliger, Irene M.;
Weber, Jim;
Behn, Holger;
Schreiter, Ruben;
Drögemüller, Cord

Publication type:

Article

MFSD2A frameshift variant in Kerry Hill sheep with microcephaly.

Published in:

Animal Genetics, 2024, v. 55, n. 1, p. 152, doi. 10.1111/age.13374

By:

Rudd Garces, Gabriela;
Letko, Anna;
Häfliger, Irene M.;
Müller, Jana;
Herden, Christiane;
Nesseler, Anne;
Wagner, Henrik;
Schmidt, Martin J.;
Drögemüller, Cord;
Lühken, Gesine

Publication type:

Article

DYRK1B haploinsufficiency in a Holstein cattle with epilepsy.

Published in:

Animal Genetics, 2023, v. 54, n. 5, p. 623, doi. 10.1111/age.13348

By:

Jacinto, Joana G. P.;
Bolcato, Marilena;
Häfliger, Irene M.;
Oevermann, Anna;
Gentile, Arcangelo;
Drögemüller, Cord

Publication type:

Article

MYH3‐associated non‐syndromic palatoschisis (cleft palate, CP) in Limousine cattle.

Published in:

Animal Genetics, 2023, v. 54, n. 4, p. 581, doi. 10.1111/age.13317

By:

Jacinto, Joana G. P.;
Schiavon, Eliana;
Häfliger, Irene M.;
Coin, Patrizio;
Seefried, Franz R.;
Drögemüller, Cord

Publication type:

Article

A germline de novo variant in NUMB associated with a double‐outlet right ventricle in Chianina cattle.

Published in:

Animal Genetics, 2022, v. 53, n. 5, p. 713, doi. 10.1111/age.13236

By:

Jacinto, Joana G. P.;
Häfliger, Irene M.;
Caivano, Domenico;
Drögemüller, Cord

Publication type:

Article

Associated regions for multiple birth in Brown Swiss and Original Braunvieh cattle on chromosomes 15 and 11.

Published in:

Animal Genetics, 2022, v. 53, n. 5, p. 557, doi. 10.1111/age.13229

By:

Widmer, Sarah;
Seefried, Franz R.;
von Rohr, Peter;
Häfliger, Irene M.;
Spengeler, Mirjam;
Drögemüller, Cord

Publication type:

Article

Is a heterozygous missense variant in SGSH the cause of a syndromic form of congenital amastia in an Original Braunvieh calf?

Published in:

Animal Genetics, 2022, v. 53, n. 4, p. 530, doi. 10.1111/age.13207

By:

Jacinto, Joana G. P.;
Häfliger, Irene M.;
Christen, Matthias;
Paris, Julia M.;
Seefried, Franz R.;
Drögemüller, Cord

Publication type:

Article

A de novo start‐lost variant in ANKRD28 in a Holstein calf with dwarfism.

Published in:

Animal Genetics, 2022, v. 53, n. 3, p. 470, doi. 10.1111/age.13204

By:

Jacinto, Joana G. P.;
Häfliger, Irene M.;
Baes, Christine F.;
de Oliveira, Hinayah R.;
Drögemüller, Cord

Publication type:

Article

A de novo variant in the bovine ADAMTSL4 gene in an Original Braunvieh calf with congenital cataract.

Published in:

Animal Genetics, 2022, v. 53, n. 3, p. 416, doi. 10.1111/age.13178

By:

Häfliger, Irene M.;
Wolf‐Hofstetter, Sonja;
Casola, Christina;
Hetzel, Udo;
Seefried, Franz R.;
Drögemüller, Cord

Publication type:

Article

The previously reported LRP4 c.4940C>T variant is not associated with syndactyly in cattle.

Published in:

Animal Genetics, 2021, v. 52, n. 3, p. 380, doi. 10.1111/age.13061

By:

Eager, Katie L.M.;
Cauchi, Monique;
Willet, Cali E.;
Häfliger, Irene M.;
Drögemüller, Cord;
O'Rourke, Brendon A.;
Tammen, Imke

Publication type:

Article

A 6.7 kb deletion in the COL2A1 gene in a Holstein calf with achondrogenesis type II and perosomus elumbis.

Published in:

Animal Genetics, 2021, v. 52, n. 2, p. 244, doi. 10.1111/age.13033

By:

Jacinto, Joana G. P.;
Häfliger, Irene M.;
Gentile, Arcangelo;
Drögemüller, Cord;
Bolcato, Marilena

Publication type:

Article

Whole genome sequencing reveals candidate causal genetic variants for spastic syndrome in Holstein cattle.

Published in:

Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-82446-z

By:

Jacinto, Joana G.P.;
Letko, Anna;
Häfliger, Irene M.;
Akyürek, Eylem Emek;
Sacchetto, Roberta;
Gentile, Arcangelo;
Drögemüller, Cord

Publication type:

Article

Is a de novo nonsense variant in the ASPDH gene the cause of ulcerative skin lesions in a Holstein calf?

Published in:

Veterinary Dermatology, 2020, v. 31, n. 3, p. 244, doi. 10.1111/vde.12827

By:

Brunner, Magdalena A. T.;
Veiga, Inês M. B.;
Niggeler, Allegra;
Häfliger, Irene M.;
Stettler, Manuela;
Meylan, Mireille;
Welle, Monika;
Drögemüller, Cord

Publication type:

Article

KCNG1 -Related Syndromic Form of Congenital Neuromuscular Channelopathy in a Crossbred Calf.

Published in:

2021

By:

Jacinto, Joana G. P.;
Häfliger, Irene M.;
Akyürek, Eylem Emek;
Sacchetto, Roberta;
Benazzi, Cinzia;
Gentile, Arcangelo;
Drögemüller, Cord

Publication type:

Case Study

Deleterious AGXT Missense Variant Associated with Type 1 Primary Hyperoxaluria (PH1) in Zwartbles Sheep.

Published in:

Genes, 2020, v. 11, n. 10, p. 1147, doi. 10.3390/genes11101147

By:

Letko, Anna;
Dijkman, Reinie;
Strugnell, Ben;
Häfliger, Irene M.;
Paris, Julia M.;
Henderson, Katrina;
Geraghty, Tim;
Orr, Hannah;
Scholes, Sandra;
Drögemüller, Cord

Publication type:

Article

Familial osteochondrodysplastic and cardiomyopathic syndrome in Chianina cattle.

Published in:

Journal of Veterinary Internal Medicine, 2024, v. 38, n. 6, p. 3346, doi. 10.1111/jvim.17221

By:

Jacinto, Joana G. P.;
Ogundipe, Tolulope G.;
Benazzi, Cinzia;
Häfliger, Irene M.;
Muscatello, Luisa V.;
Bolcato, Marilena;
Rinnovati, Riccardo;
Gentile, Arcangelo;
Drögemüller, Cord

Publication type:

Article

A missense variant in DGKG as a recessive functional variant for hepatic fibrinogen storage disease in Wagyu cattle.

Published in:

Journal of Veterinary Internal Medicine, 2023, v. 37, n. 6, p. 2631, doi. 10.1111/jvim.16865

By:

Jacinto, Joana G. P.;
Wohlsein, Peter;
Häfliger, Irene M.;
Karl, Michael;
Pohlers, Michael;
Plobner, Lutz;
Grünberg, Walter;
Drögemüller, Cord

Publication type:

Article

A homozygous missense variant in laminin subunit beta 1 as candidate causal mutation of hemifacial microsomia in Romagnola cattle.

Published in:

Journal of Veterinary Internal Medicine, 2022, v. 36, n. 1, p. 292, doi. 10.1111/jvim.16316

By:

Jacinto, Joana G. P.;
Häfliger, Irene M.;
Bernardini, Marco;
Mandara, Maria Teresa;
Bianchi, Ezio;
Bolcato, Marilena;
Romagnoli, Noemi;
Gentile, Arcangelo;
Drögemüller, Cord

Publication type:

Article

A de novo mutation in KRT5 in a crossbred calf with epidermolysis bullosa simplex.

Published in:

Journal of Veterinary Internal Medicine, 2020, v. 34, n. 6, p. 2800, doi. 10.1111/jvim.15943

By:

Jacinto, Joana G. P.;
Häfliger, Irene M.;
Veiga, Inês M. B.;
Drögemüller, Cord;
Agerholm, Jørgen S.

Publication type:

Article

DSP missense variant in a Scottish Highland calf with congenital ichthyosis, alopecia, acantholysis of the tongue and corneal defects.

Published in:

BMC Veterinary Research, 2022, v. 18, n. 1, p. 1, doi. 10.1186/s12917-021-03113-3

By:

Häfliger, Irene M.;
Koch, Caroline T.;
Michel, Astrid;
Rüfenacht, Silvia;
Meylan, Mireille;
Welle, Monika M.;
Drögemüller, Cord

Publication type:

Article

CNGB3 Missense Variant Causes Recessive Achromatopsia in Original Braunvieh Cattle.

Published in:

International Journal of Molecular Sciences, 2021, v. 22, n. 22, p. 12440, doi. 10.3390/ijms222212440

By:

Häfliger, Irene M.;
Marchionatti, Emma;
Stengård, Michele;
Wolf-Hofstetter, Sonja;
Paris, Julia M.;
Jacinto, Joana G. P.;
Watté, Christine;
Voelter, Katrin;
Occelli, Laurence M.;
Komáromy, András M.;
Oevermann, Anna;
Goepfert, Christine;
Borgo, Angelica;
Roduit, Raphaël;
Spengeler, Mirjam;
Seefried, Franz R.;
Drögemüller, Cord

Publication type:

Article

A frameshift insertion in FA2H causes a recessively inherited form of ichthyosis congenita in Chianina cattle.

Published in:

Molecular Genetics & Genomics, 2021, v. 296, n. 6, p. 1313, doi. 10.1007/s00438-021-01824-8

By:

Jacinto, Joana G. P.;
Häfliger, Irene M.;
Veiga, Inês M. B.;
Letko, Anna;
Gentile, Arcangelo;
Drögemüller, Cord

Publication type:

Article

Compound heterozygous PLA2G6 loss-of-function variants in Swaledale sheep with neuroaxonal dystrophy.

Published in:

Molecular Genetics & Genomics, 2021, v. 296, n. 1, p. 235, doi. 10.1007/s00438-020-01742-1

By:

Letko, Anna;
Strugnell, Ben;
Häfliger, Irene M.;
Paris, Julia M.;
Waine, Katie;
Drögemüller, Cord;
Scholes, Sandra

Publication type:

Article

A Missense Variant in PLP2 in Holstein Cattle with X-Linked Congenital Mast Cell Tumor.

Published in:

Animals (2076-2615), 2022, v. 12, n. 18, p. 2329, doi. 10.3390/ani12182329

By:

Jacinto, Joana G. P.;
Muscatello, Luisa Vera;
Häfliger, Irene M.;
Benazzi, Cinzia;
Bolcato, Marilena;
Gentile, Arcangelo;
Drögemüller, Cord

Publication type:

Article

Reverse Genetic Screen for Deleterious Recessive Variants in the Local Simmental Cattle Population of Switzerland.

Published in:

Animals (2076-2615), 2021, v. 11, n. 12, p. 3535, doi. 10.3390/ani11123535

By:

Häfliger, Irene M.;
Seefried, Franz R.;
Drögemüller, Cord

Publication type:

Article

A Heterozygous Missense Variant in MAP2K2 in a Stillborn Romagnola Calf with Skeletal-Cardio-Enteric Dysplasia.

Published in:

Animals (2076-2615), 2021, v. 11, n. 7, p. 1931, doi. 10.3390/ani11071931

By:

Jacinto, Joana G. P.;
Häfliger, Irene M.;
Gentile, Arcangelo;
Drögemüller, Cord

Publication type:

Article

X-Linked Hypohidrotic Ectodermal Dysplasia in Crossbred Beef Cattle Due to a Large Deletion in EDA.

Published in:

Animals (2076-2615), 2021, v. 11, n. 3, p. 657, doi. 10.3390/ani11030657

By:

O'Toole, Donal;
Häfliger, Irene M.;
Leuthard, Fabienne;
Schumaker, Brant;
Steadman, Lynn;
Murphy, Brian;
Drögemüller, Cord;
Leeb, Tosso;
Ciotola, Francesca;
Albarella, Sara;
Peretti, Vincenzo

Publication type:

Article

Clinicopathological and Genomic Characterization of a Simmental Calf with Generalized Bovine Juvenile Angiomatosis.

Published in:

Animals (2076-2615), 2021, v. 11, n. 3, p. 624, doi. 10.3390/ani11030624

By:

Jacinto, Joana G. P.;
Häfliger, Irene M.;
Borel, Nicole;
Zanolari, Patrik;
Drögemüller, Cord;
Veiga, Inês M. B.;
Ciotola, Francesca;
Albarella, Sara;
Peretti, Vincenzo

Publication type:

Article

A De Novo Mutation in COL1A1 in a Holstein Calf with Osteogenesis Imperfecta Type II.

Published in:

Animals (2076-2615), 2021, v. 11, n. 2, p. 561, doi. 10.3390/ani11020561

By:

Jacinto, Joana G. P.;
Häfliger, Irene M.;
McEvoy, Fintan J.;
Drögemüller, Cord;
Agerholm, Jørgen S.;
Ciotola, Francesca;
Albarella, Sara;
Peretti, Vincenzo

Publication type:

Article

A Heterozygous Missense Variant in the COL5A2 in Holstein Cattle Resembling the Classical Ehlers–Danlos Syndrome.

Published in:

Animals (2076-2615), 2020, v. 10, n. 11, p. 2002, doi. 10.3390/ani10112002

By:

Jacinto, Joana G. P.;
Häfliger, Irene M.;
Veiga, Inês M. B.;
Letko, Anna;
Benazzi, Cinzia;
Bolcato, Marilena;
Drögemüller, Cord

Publication type:

Article

High confidence copy number variants identified in Holstein dairy cattle from whole genome sequence and genotype array data.

Published in:

Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-64680-3

By:

Butty, Adrien M.;
Chud, Tatiane C. S.;
Miglior, Filippo;
Schenkel, Flavio S.;
Kommadath, Arun;
Krivushin, Kirill;
Grant, Jason R.;
Häfliger, Irene M.;
Drögemüller, Cord;
Cánovas, Angela;
Stothard, Paul;
Baes, Christine F.

Publication type:

Article

Mining massive genomic data of two Swiss Braunvieh cattle populations reveals six novel candidate variants that impair reproductive success.

Published in:

Genetics Selection Evolution, 2021, v. 53, n. 1, p. 1, doi. 10.1186/s12711-021-00686-3

By:

Häfliger, Irene M.;
Seefried, Franz R.;
Spengeler, Mirjam;
Drögemüller, Cord

Publication type:

Article

A major QTL at the LHCGR/FSHR locus for multiple birth in Holstein cattle.

Published in:

Genetics Selection Evolution, 2021, v. 53, n. 1, p. 1, doi. 10.1186/s12711-021-00650-1

By:

Widmer, Sarah;
Seefried, Franz R.;
von Rohr, Peter;
Häfliger, Irene M.;
Spengeler, Mirjam;
Drögemüller, Cord

Publication type:

Article

Four novel candidate causal variants for deficient homozygous haplotypes in Holstein cattle.

Published in:

Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-09403-6

By:

Häfliger, Irene M.;
Spengeler, Mirjam;
Seefried, Franz R.;
Drögemüller, Cord

Publication type:

Article

Thrombocytopenic purpura on an organic farm with pen mating: a case report on the re-emergence of an old disease.

Published in:

Porcine Health Management, 2020, v. 6, n. 1, p. 1, doi. 10.1186/s40813-020-00157-z

By:

Joller, Sara;
Häfliger, Irene M.;
Drögemüller, Cord;
Richard, Olivia K.;
Grahofer, Alexander

Publication type:

Article

An IL17RA frameshift variant in a Holstein cattle family with psoriasis-like skin alterations and immunodeficiency.

Published in:

BMC Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12863-020-00860-4

By:

Häfliger, Irene M.;
Sickinger, Marlene;
Holsteg, Mark;
Raeder, Leif M.;
Henrich, Manfred;
Marquardt, Siegfried;
Drögemüller, Cord;
Lühken, Gesine

Publication type:

Article