Sarina G Kant

Sarina G Kant

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Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.

Authors:
Pleuntje J van der Sluijs Sandra Jansen Samantha A Vergano Miho Adachi-Fukuda Yasemin Alanay Adila AlKindy Anwar Baban Allan Bayat Stefanie Beck-Wödl Katherine Berry Emilia K Bijlsma Levinus A Bok Alwin F J Brouwer Ineke van der Burgt Philippe M Campeau Natalie Canham Krystyna Chrzanowska Yoyo W Y Chu Brain H Y Chung Karin Dahan Marjan De Rademaeker Anne Destree Tracy Dudding-Byth Rachel Earl Nursel Elcioglu Ellen R Elias Christina Fagerberg Alice Gardham Blanca Gener Erica H Gerkes Ute Grasshoff Arie van Haeringen Karin R Heitink Johanna C Herkert Nicolette S den Hollander Denise Horn David Hunt Sarina G Kant Mitsuhiro Kato Hülya Kayserili Rogier Kersseboom Esra Kilic Malgorzata Krajewska-Walasek Kylin Lammers Lone W Laulund Damien Lederer Melissa Lees Vanesa López-González Saskia Maas Grazia M S Mancini Carlo Marcelis Francisco Martinez Isabelle Maystadt Marianne McGuire Shane McKee Sarju Mehta Kay Metcalfe Jeff Milunsky Seiji Mizuno John B Moeschler Christian Netzer Charlotte W Ockeloen Barbara Oehl-Jaschkowitz Nobuhiko Okamoto Sharon N M Olminkhof Carmen Orellana Laurent Pasquier Caroline Pottinger Vera Riehmer Stephen P Robertson Maian Roifman Caroline Rooryck Fabienne G Ropers Monica Rosello Claudia A L Ruivenkamp Mahmut S Sagiroglu Suzanne C E H Sallevelt Amparo Sanchis Calvo Pelin O Simsek-Kiper Gabriela Soares Lucia Solaeche Fatma Mujgan Sonmez Miranda Splitt Duco Steenbeek Alexander P A Stegmann Constance T R M Stumpel Saori Tanabe Eyyup Uctepe G Eda Utine Hermine E Veenstra-Knol Sunita Venkateswaran Catheline Vilain Catherine Vincent-Delorme Anneke T Vulto-van Silfhout Patricia Wheeler Golder N Wilson Louise C Wilson Bernd Wollnik Tomoki Kosho Dagmar Wieczorek Evan Eichler Rolph Pfundt Bert B A de Vries Jill Clayton-Smith Gijs W E Santen

Genet Med 2019 Sep;21(9):2160-2161

Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://dx.doi.org/10.1038/s41436-018-0368-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752317PMC
September 2019

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.

Authors:
Pleuntje J van der Sluijs Sandra Jansen Samantha A Vergano Miho Adachi-Fukuda Yasemin Alanay Adila AlKindy Anwar Baban Allan Bayat Stefanie Beck-Wödl Katherine Berry Emilia K Bijlsma Levinus A Bok Alwin F J Brouwer Ineke van der Burgt Philippe M Campeau Natalie Canham Krystyna Chrzanowska Yoyo W Y Chu Brain H Y Chung Karin Dahan Marjan De Rademaeker Anne Destree Tracy Dudding-Byth Rachel Earl Nursel Elcioglu Ellen R Elias Christina Fagerberg Alice Gardham Blanca Gener Erica H Gerkes Ute Grasshoff Arie van Haeringen Karin R Heitink Johanna C Herkert Nicolette S den Hollander Denise Horn David Hunt Sarina G Kant Mitsuhiro Kato Hülya Kayserili Rogier Kersseboom Esra Kilic Malgorzata Krajewska-Walasek Kylin Lammers Lone W Laulund Damien Lederer Melissa Lees Vanesa López-González Saskia Maas Grazia M S Mancini Carlo Marcelis Francisco Martinez Isabelle Maystadt Marianne McGuire Shane McKee Sarju Mehta Kay Metcalfe Jeff Milunsky Seiji Mizuno John B Moeschler Christian Netzer Charlotte W Ockeloen Barbara Oehl-Jaschkowitz Nobuhiko Okamoto Sharon N M Olminkhof Carmen Orellana Laurent Pasquier Caroline Pottinger Vera Riehmer Stephen P Robertson Maian Roifman Caroline Rooryck Fabienne G Ropers Monica Rosello Claudia A L Ruivenkamp Mahmut S Sagiroglu Suzanne C E H Sallevelt Amparo Sanchis Calvo Pelin O Simsek-Kiper Gabriela Soares Lucia Solaeche Fatma Mujgan Sonmez Miranda Splitt Duco Steenbeek Alexander P A Stegmann Constance T R M Stumpel Saori Tanabe Eyyup Uctepe G Eda Utine Hermine E Veenstra-Knol Sunita Venkateswaran Catheline Vilain Catherine Vincent-Delorme Anneke T Vulto-van Silfhout Patricia Wheeler Golder N Wilson Louise C Wilson Bernd Wollnik Tomoki Kosho Dagmar Wieczorek Evan Eichler Rolph Pfundt Bert B A de Vries Jill Clayton-Smith Gijs W E Santen

Genet Med 2019 06 8;21(6):1295-1307. Epub 2018 Nov 8.

Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://www.nature.com/articles/s41436-018-0330-z
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http://dx.doi.org/10.1038/s41436-018-0330-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752273PMC
June 2019

Characterization of an activating R1353H insulin-like growth factor 1 receptor variant in a male with extreme tall height.

Eur J Endocrinol 2018 Aug 22;179(2):85-95. Epub 2018 May 22.

Department of Oncology-Pathology, Karolinska Institutet, Cancer Center Karolinska (CCK), Karolinska University Hospital, Stockholm, Sweden.

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http://dx.doi.org/10.1530/EJE-18-0176DOI Listing
August 2018

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.

Am J Hum Genet 2018 06 31;102(6):1195-1203. Epub 2018 May 31.

Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, UK; Craniofacial Unit, Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Oxford OX3 9DU, UK. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183016
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http://dx.doi.org/10.1016/j.ajhg.2018.04.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5992133PMC
June 2018

Two novel cases expanding the phenotype of SETD2-related overgrowth syndrome.

Am J Med Genet A 2018 05;176(5):1212-1215

Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.38666DOI Listing
May 2018

Phelan-McDermid syndrome due to mutation in an intellectually disabled adult male: successful treatment with lithium.

BMJ Case Rep 2017 Sep 28;2017. Epub 2017 Sep 28.

Department of Clinical Genetics, Leiden University Medical Centre, Leiden, Netherlands.

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http://dx.doi.org/10.1136/bcr-2017-220778DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5652380PMC
September 2017

MECHANISMS IN ENDOCRINOLOGY: Novel genetic causes of short stature.

Eur J Endocrinol 2016 Apr 17;174(4):R145-73. Epub 2015 Nov 17.

Departments of PaediatricsClinical GeneticsLeiden University Medical Center, PO Box 9600, 2300 RC Leiden, The Netherlands.

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http://dx.doi.org/10.1530/EJE-15-0937DOI Listing
April 2016

Copy number variants including RAS pathway genes-How much RASopathy is in the phenotype?

Am J Med Genet A 2015 Nov 14;167A(11):2685-90. Epub 2015 May 14.

Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.

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http://dx.doi.org/10.1002/ajmg.a.37155DOI Listing
November 2015

A Girl With Beckwith-Wiedemann Syndrome and Pseudohypoparathyroidism Type 1B Due to Multiple Imprinting Defects.

J Clin Endocrinol Metab 2015 Nov 14;100(11):3963-6. Epub 2015 Sep 14.

Department of Pediatrics (B.B., L.J.H.S., M.C.W.), Reinier de Graaf Hospital, 2625 AD Delft, The Netherlands; Department of Clinical Genetics (H.B.), Academic Medical Center, University of Amsterdam, 1105 AZ Amsterdam, The Netherlands; and Department of Clinical Genetics (S.G.K.), Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.

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http://dx.doi.org/10.1210/jc.2015-2260DOI Listing
November 2015

A novel variant of FGFR3 causes proportionate short stature.

Eur J Endocrinol 2015 Jun 16;172(6):763-70. Epub 2015 Mar 16.

Department of Clinical GeneticsLeiden University Medical Center, PO Box 9600, 2300RC, Leiden, The NetherlandsDepartment of BiologyFaculty of MedicineCentral European Institute of TechnologyMasaryk University, Brno, Czech RepublicDepartment of PediatricsLeiden University Medical Center, Leiden, The NetherlandsDepartment of Internal MedicineErasmus Medical Center, Rotterdam, The NetherlandsDepartment of Orthopaedic SurgeryDavid Geffen School of Medicine at UCLA, Los Angeles, California, USA.

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http://dx.doi.org/10.1530/EJE-14-0945DOI Listing
June 2015

PAPSS2 deficiency causes androgen excess via impaired DHEA sulfation--in vitro and in vivo studies in a family harboring two novel PAPSS2 mutations.

J Clin Endocrinol Metab 2015 Apr 16;100(4):E672-80. Epub 2015 Jan 16.

Department of Pediatrics (W.O., M.C.d.V., J.M.W.), Leiden University Medical Center, 2300 RC Leiden, The Netherlands; Centre for Endocrinology, Diabetes, and Metabolism (J.I., J.W.M., P.J.H., A.E.T., M.W.O., B.A.H., W.A.), School of Clinical and Experimental Medicine, University of Birmingham, Birmingham B15 2TT, United Kingdom; Department of Clinical Genetics (S.G.K., G.W.E.S., M.L.), Leiden University Medical Center, 2300 RC Leiden, The Netherlands; and Department of Internal Medicine (A.J.M.H.V., A.G.U.), Erasmus Medical Center Rotterdam, 3000 CA Rotterdam, The Netherlands.

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http://dx.doi.org/10.1210/jc.2014-3556DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4399300PMC
April 2015

Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome.

Am J Hum Genet 2014 Dec;95(6):763-70

Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany; Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany; Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.11.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4259972PMC
December 2014

Phelan-McDermid syndrome: clinical report of a 70-year-old woman.

Am J Med Genet A 2013 Jan 19;161A(1):158-61. Epub 2012 Nov 19.

Vincent van Gogh Institute for Psychiatry, Centre of Excellence for Neuropsychiatry, Venray, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.35597DOI Listing
January 2013

Molecular and clinical characterization of patients with a ring chromosome 11.

Eur J Med Genet 2012 Dec 23;55(12):708-14. Epub 2012 Aug 23.

Dept. of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://dx.doi.org/10.1016/j.ejmg.2012.08.004DOI Listing
December 2012

Clinical and genetic characteristics and effects of long-term growth hormone therapy in a girl with Floating-Harbor syndrome.

J Pediatr Endocrinol Metab 2012 ;25(1-2):207-12

Institute of Maternal and Chile Research (IDIMI), University of Chile, Santiago, Chile.

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http://dx.doi.org/10.1515/jpem.2011.406DOI Listing
May 2012

Three new cases with a mosaicism involving a normal cell line and a cryptic unbalanced autosomal reciprocal translocation.

Eur J Med Genet 2011 Jul-Aug;54(4):e409-12. Epub 2011 May 23.

Center for Human and Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, The Netherlands.

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http://dx.doi.org/10.1016/j.ejmg.2011.05.002DOI Listing
October 2011

The jumping SHOX gene--crossover in the pseudoautosomal region resulting in unusual inheritance of Leri-Weill dyschondrosteosis.

J Clin Endocrinol Metab 2011 Feb 10;96(2):E356-9. Epub 2010 Nov 10.

Center for Human and Clinical Genetics-Department of Clinical Genetics, Leiden University Medical Center, P.O. Box 9600, 2300 RC Leiden, The Netherlands.

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http://dx.doi.org/10.1210/jc.2010-1505DOI Listing
February 2011

Causes of permanent childhood hearing impairment.

Laryngoscope 2011 Feb;121(2):409-16

Willem-Alexander Children and Youth Center, Subdepartment of Social Pediatrics, Leiden University Medical Center, Leiden, The Netherlands.

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http://dx.doi.org/10.1002/lary.21377DOI Listing
February 2011

Discordance for Schimmelpenning-Feuerstein-Mims syndrome in monochorionic twins supports the concept of a postzygotic mutation.

Am J Med Genet A 2010 Nov;152A(11):2816-9

Division of Neonatology, Department of Pediatrics, Leiden University Medical Center, Leiden, the Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.33635DOI Listing
November 2010

Genome-wide SNP array analysis in patients with features of sotos syndrome.

Horm Res Paediatr 2010 9;73(4):265-74. Epub 2010 Mar 9.

Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands. r.visser @ lumc.nl

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http://dx.doi.org/10.1159/000284391DOI Listing
June 2010

Overgrowth syndromes:from classical to new.

Pediatr Endocrinol Rev 2009 Mar;6(3):375-94

Department of Pediatrics, Leiden University Medical Center, Netherlands.

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March 2009

RNF135 mutations are not present in patients with Sotos syndrome-like features.

Am J Med Genet A 2009 Feb;149A(4):806-8

Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands.

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http://doi.wiley.com/10.1002/ajmg.a.32694
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http://dx.doi.org/10.1002/ajmg.a.32694DOI Listing
February 2009

Normal growth and muscle dysfunction in X-linked hypophosphatemic rickets associated with a novel mutation in the PHEX gene.

J Clin Endocrinol Metab 2008 Apr 5;93(4):1386-9. Epub 2008 Feb 5.

Department of Endocrinology and Metabolic Diseases, Leiden University Medical Center, Albinusdreef 2, 2333 ZA, Leiden, The Netherlands.

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http://dx.doi.org/10.1210/jc.2007-1296DOI Listing
April 2008

Clinical and molecular phenotype of Aicardi-Goutieres syndrome.

Authors:
Gillian Rice Teresa Patrick Rekha Parmar Claire F Taylor Alec Aeby Jean Aicardi Rafael Artuch Simon Attard Montalto Carlos A Bacino Bruno Barroso Peter Baxter Willam S Benko Carsten Bergmann Enrico Bertini Roberta Biancheri Edward M Blair Nenad Blau David T Bonthron Tracy Briggs Louise A Brueton Han G Brunner Christopher J Burke Ian M Carr Daniel R Carvalho Kate E Chandler Hans-Jurgen Christen Peter C Corry Frances M Cowan Helen Cox Stefano D'Arrigo John Dean Corinne De Laet Claudine De Praeter Catherine Dery Colin D Ferrie Kim Flintoff Suzanna G M Frints Angels Garcia-Cazorla Blanca Gener Cyril Goizet Francoise Goutieres Andrew J Green Agnes Guet Ben C J Hamel Bruce E Hayward Arvid Heiberg Raoul C Hennekam Marie Husson Andrew P Jackson Rasieka Jayatunga Yong-Hui Jiang Sarina G Kant Amy Kao Mary D King Helen M Kingston Joerg Klepper Marjo S van der Knaap Andrew J Kornberg Dieter Kotzot Wilfried Kratzer Didier Lacombe Lieven Lagae Pierre Georges Landrieu Giovanni Lanzi Andrea Leitch Ming J Lim John H Livingston Charles M Lourenco E G Hermione Lyall Sally A Lynch Michael J Lyons Daphna Marom John P McClure Robert McWilliam Serge B Melancon Leena D Mewasingh Marie-Laure Moutard Ken K Nischal John R Ostergaard Julie Prendiville Magnhild Rasmussen R Curtis Rogers Dominique Roland Elisabeth M Rosser Kevin Rostasy Agathe Roubertie Amparo Sanchis Raphael Schiffmann Sabine Scholl-Burgi Sunita Seal Stavit A Shalev C Sierra Corcoles Gyan P Sinha Doriette Soler Ronen Spiegel John B P Stephenson Uta Tacke Tiong Yang Tan Marianne Till John L Tolmie Pam Tomlin Federica Vagnarelli Enza Maria Valente Rudy N A Van Coster Nathalie Van der Aa Adeline Vanderver Johannes S H Vles Thomas Voit Evangeline Wassmer Bernhard Weschke Margo L Whiteford Michel A A Willemsen Andreas Zankl Sameer M Zuberi Simona Orcesi Elisa Fazzi Pierre Lebon Yanick J Crow

Am J Hum Genet 2007 Oct 4;81(4):713-25. Epub 2007 Sep 4.

Leeds Institute of Molecular Medicine, St James's University Hospital, Leeds, LS9 7TF, UK.

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http://dx.doi.org/10.1086/521373DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2227922PMC
October 2007

MRI supported diagnosis and counselling in a family with a probably autosomal recessive form of pachygyria.

Prenat Diagn 2005 Dec;25(12):1097-101

Department of Obstetrics, Leiden University Medical Centre, Leiden, The Netherlands.

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http://dx.doi.org/10.1002/pd.1244DOI Listing
December 2005