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Author/Creator Hackmann, Karl

1. Severe intellectual disability, West syndrome, Dandy–Walker malformation, and syndactyly in a patient with partial tetrasomy 17q25.3. Issue 12 (16th August 2013)

Authors:
Hackmann, Karl; Stadler, Anja; Schallner, Jens; Franke, Kathlen; Gerlach, Eva‐Maria; Schrock, Evelin; Rump, Andreas; Fauth, Christine; Tinschert, Sigrid; Oexle, Konrad
Journal:
American journal of medical genetics
Issue:
Volume 161:Issue 12(2013:Dec.)
Page Start:
3144
Record Type:
Journal Article
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2. Update on the ACTG1‐associated Baraitser–Winter cerebrofrontofacial syndrome. Issue 10 (30th May 2016)

Authors:
Di Donato, Nataliya; Kuechler, Alma; Vergano, Samantha; Heinritz, Wolfram; Bodurtha, Joann; Merchant, Sabiha R.; Breningstall, Galen; Ladda, Roger; Sell, Susan; Altmüller, Janine; Bögershausen, Nina; Timms, Andrew E.; Hackmann, Karl; Schrock, Evelin; Collins, Sarah; Olds, Carissa; Rump, Andreas; ...
Other Names:
Hennekam Raoul C.M. guestEditor.; Biesecker Leslie G. guestEditor.
Journal:
American journal of medical genetics
Issue:
Volume 170:Issue 10(2016)
Page Start:
2644
Record Type:
Journal Article
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3. Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt. Issue 6 (3rd February 2016)

Authors:
Di Donato, Nataliya; Neuhann, Teresa; Kahlert, Anne-Karin; Klink, Barbara; Hackmann, Karl; Neuhann, Irmingard; Novotna, Barbora; Schallner, Jens; Krause, Claudia; Glass, Ian A; Parnell, Shawn E; Benet-Pages, Anna; Nissen, Anke M; Berger, Wolfgang; Altmüller, Janine; Thiele, Holger; Weber, Bernhar...
Journal:
Journal of medical genetics
Issue:
Volume 53:Issue 6(2016)
Page Start:
419
Record Type:
Journal Article
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4. PBX1 haploinsufficiency leads to syndromic congenital anomalies of the kidney and urinary tract (CAKUT) in humans. Issue 7 (7th March 2017)

Authors:
Le Tanno, Pauline; Breton, Julie; Bidart, Marie; Satre, Véronique; Harbuz, Radu; Ray, Pierre F; Bosson, Caroline; Dieterich, Klaus; Jaillard, Sylvie; Odent, Sylvie; Poke, Gemma; Beddow, Rachel; Digilio, Maria Christina; Novelli, Antonio; Bernardini, Laura; Pisanti, Maria Antonietta; Mackenroth, L...
Journal:
Journal of medical genetics
Issue:
Volume 54:Issue 7(2017)
Page Start:
502
Record Type:
Journal Article
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5. Functional monosomy of 6q27‐qter and functional disomy of Xpter‐p22.11 due to X;6 translocation with an atypical X‐inactivation pattern. Issue 5 (31st March 2017)

Authors:
Podolska, Anna; Kobelt, Albrecht; Fuchs, Sigrid; Hackmann, Karl; Rump, Andreas; Schröck, Evelin; Kutsche, Kerstin; Di Donato, Nataliya
Journal:
American journal of medical genetics
Issue:
Volume 173:Issue 5(2017)
Page Start:
1334
Record Type:
Journal Article
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7. Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes. Issue 1 (January 2023)

Authors:
Garcia-Pelaez, José; Barbosa-Matos, Rita; Lobo, Silvana; Dias, Alexandre; Garrido, Luzia; Castedo, Sérgio; Sousa, Sónia; Pinheiro, Hugo; Sousa, Liliana; Monteiro, Rita; Maqueda, Joaquin J; Fernandes, Susana; Carneiro, Fátima; Pinto, Nádia; Lemos, Carolina; Pinto, Carla; Teixeira, Manuel R; Aretz,...
Journal:
Lancet oncology
Issue:
Volume 24:Issue 1(2023)
Page Start:
91
Record Type:
Journal Article
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8. Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification. Issue 9 (13th September 2019)

Authors:
Parsons, Michael T.; Tudini, Emma; Li, Hongyan; Hahnen, Eric; Wappenschmidt, Barbara; Feliubadaló, Lidia; Aalfs, Cora M.; Agata, Simona; Aittomäki, Kristiina; Alducci, Elisa; Alonso‐Cerezo, María Concepción; Arnold, Norbert; Auber, Bernd; Austin, Rachel; Azzollini, Jacopo; Balmaña, Judith; Barbie...
Editors:
Moult, John; Brenner, Steven E.
Other Names:
Karchin Rachel guestEditor.; Pal Lipika R. specialEditor.
Journal:
Human mutation
Issue:
Volume 40:Issue 9(2019)
Page Start:
1557
Record Type:
Journal Article
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10. Next-generation panel sequencing identifies NF1 germline mutations in three patients with pheochromocytoma but no clinical diagnosis of neurofibromatosis type 1. Issue 2 (February 2018)

Authors:
Gieldon, Laura; Masjkur, Jimmy Rusdian; Richter, Susan; Därr, Roland; Lahera, Marcos; Aust, Daniela; Zeugner, Silke; Rump, Andreas; Hackmann, Karl; Tzschach, Andreas; Januszewicz, Andrzej; Prejbisz, Aleksander; Eisenhofer, Graeme; Schrock, Evelin; Robledo, Mercedes; Klink, Barbara
Journal:
European journal of endocrinology
Issue:
Volume 178:Issue 2(2018)
Page Start:
K1
Record Type:
Journal Article
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