Search Results - "Schlade-Bartusiak, Kamilla" :: K.UTB vyhledávací portál | TBU Library Retrieval Portal

Long‐read genome sequencing resolves a complex 13q structural variant associated with syndromic anophthalmia

Long‐read genome sequencing resolves a complex 13q structural variant associated with syndromic anophthalmia

by Boerkoel, Pierre K., Dixon, Katherine, Fitzsimons, Carrie, Shen, Yaoqing, Huynh, Stephanie, Schlade‐Bartusiak, Kamilla, Culibrk, Luka, Chan, Simon, Boerkoel, Cornelius F., Jones, Steven J. M., Chin, Hui‐Lin
Published in American journal of medical genetics. Part A (01.05.2022)

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An approach to rapid characterization of DMD copy number variants for prenatal risk assessment

An approach to rapid characterization of DMD copy number variants for prenatal risk assessment

by Chin, Hui‐Lin, O'Neill, Kieran, Louie, Kristal, Brown, Lindsay, Schlade‐Bartusiak, Kamilla, Eydoux, Patrice, Rupps, Rosemarie, Farahani, Ali, Boerkoel, Cornelius F., Jones, Steven J. M.
Published in American journal of medical genetics. Part A (01.08.2021)

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Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis

Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis

by HARLALKA, Gaurav V, LEHMAN, Anna, PROUKAKIS, Christos, ROYLE, Louise, KOZAK, Radoslaw P, BASTAKI, Laila, PATTON, Michael, WAGNER, Karin, COBLENTZ, Roselyn, PRICE, Joy, MEZEI, Michelle, SCHLADE-BARTUSIAK, Kamilla, CHIOZA, Barry, PLATT, Frances M, HURLES, Matthew E, CROSBY, Andrew H, BAPLE, Emma L, MAROOFIAN, Reza, CROSS, Harold, SREEKANTAN-NAIR, Ajith, PRIESTMAN, David A, AL-TURKI, Saeed, MCENTAGART, Meriel E
Published in Brain (London, England : 1878) (01.12.2013)

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Mosaic embryo transfer—first report of a live born with nonmosaic partial aneuploidy and uniparental disomy 15

Mosaic embryo transfer—first report of a live born with nonmosaic partial aneuploidy and uniparental disomy 15

by Schlade-Bartusiak, Kamilla, Strong, Emma, Zhu, Olive, Mackie, Jessica, Salema, Diane, Volodarsky, Michael, Roberts, Jeffrey, Steinraths, Michelle
Published in F&S Reports (Online) (01.09.2022)

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Brain MRI abnormalities and spectrum of neurological and clinical findings in three patients with proximal 16p11.2 microduplication

Brain MRI abnormalities and spectrum of neurological and clinical findings in three patients with proximal 16p11.2 microduplication

by Filges, Isabel, Sparagana, Steven, Sargent, Michael, Selby, Kathryn, Schlade-Bartusiak, Kamilla, Lueder, Gregg T., Robichaux-Viehoever, Amy, Schlaggar, Bradley L., Shimony, Joshua S., Shinawi, Marwan
Published in American journal of medical genetics. Part A (01.08.2014)

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A co‐occurrence of osteogenesis imperfecta type VI and cystinosis

A co‐occurrence of osteogenesis imperfecta type VI and cystinosis

by Tucker, Tracy, Nelson, Tanya, Sirrs, Sandra, Roughley, Peter, Glorieux, Francis H., Moffatt, Pierre, Schlade‐Bartusiak, Kamilla, Brown, Lindsay, Rauch, Frank
Published in American journal of medical genetics. Part A (01.06.2012)

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A child with terminal 14q deletion syndrome: Consideration of genotype–phenotype correlations

A child with terminal 14q deletion syndrome: Consideration of genotype–phenotype correlations

by Schlade‐Bartusiak, Kamilla, Ardinger, Holly, Cox, Diane W.
Published in American journal of medical genetics. Part A (01.05.2009)

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BPES with atypical premature ovarian insufficiency, and evidence of mitotic recombination, in a woman with trisomy X and a translocation t(3;11)(q22.3;q14.1)

BPES with atypical premature ovarian insufficiency, and evidence of mitotic recombination, in a woman with trisomy X and a translocation t(3;11)(q22.3;q14.1)

by Schlade‐Bartusiak, Kamilla, Brown, Lindsay, Lomax, Brenda, Bruyère, Hélène, Gillan, Tanya, Hamilton, Sara, McGillivray, Barbara, Eydoux, Patrice
Published in American journal of medical genetics. Part A (01.09.2012)

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Independent post-zygotic breaks of a dicentric chromosome result in mosaicism for an inverted duplication deletion 9p and terminal deletion 9p

Independent post-zygotic breaks of a dicentric chromosome result in mosaicism for an inverted duplication deletion 9p and terminal deletion 9p

by Schlade-Bartusiak, Kamilla, Tucker, Tracy, Safavi, Holly, Livingston, Janet, van Allen, Margot I, Eydoux, Patrice, Armstrong, Linlea
Published in European journal of medical genetics (01.05.2013)

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A child with deletion (14)(q24.3q32.13) and auditory neuropathy

A child with deletion (14)(q24.3q32.13) and auditory neuropathy

by Schlade‐Bartusiak, Kamilla, Macintyre, Georgina, Zunich, Janice, Cox, Diane W.
Published in American journal of medical genetics. Part A (01.01.2008)

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Polymorphism in nucleotide excision repair gene XPC correlates with bleomycin-induced chromosomal aberrations

Polymorphism in nucleotide excision repair gene XPC correlates with bleomycin-induced chromosomal aberrations

by Laczmanska, Izabela, Gil, Justyna, Karpinski, Pawel, Stembalska, Agnieszka, Trusewicz, Alicja, Pesz, Karolina, Ramsey, David, Schlade-Bartusiak, Kamilla, Blin, Nikolaus, Sasiadek, Maria Malgorzata
Published in Environmental and molecular mutagenesis (01.10.2007)

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FISH-mapping of telomeric 14q32 deletions: Search for the cause of seizures

FISH-mapping of telomeric 14q32 deletions: Search for the cause of seizures

by Schlade-Bartusiak, Kamilla, Costa, Teresa, Summers, Anne M., Nowaczyk, Malgorzata J.M., Cox, Diane W.
Published in American journal of medical genetics. Part A (15.10.2005)

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MG-117 Chromosome microarray and non-coding DNA copy number variants – a case of alveolar capillary dysplasia at FOXF1 locus

MG-117 Chromosome microarray and non-coding DNA copy number variants – a case of alveolar capillary dysplasia at FOXF1 locus

by Schlade-Bartusiak, Kamilla, Gagne, Eric, Hendson, Glenda, McKinnon, Margaret
Published in Journal of medical genetics (01.11.2015)

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Clinical and molecular characterization of an almost complete ring chromosome 4 in two sisters, with recurrence due to gonadal mosaicism

Clinical and molecular characterization of an almost complete ring chromosome 4 in two sisters, with recurrence due to gonadal mosaicism

by Phillips, Eliza A, Caluseriu, Oana, Schlade-Bartusiak, Kamilla, Chernos, Judy, McLeod, D Ross, Thomas, Mary Ann
Published in Clinical dysmorphology (01.10.2021)

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MG-127 Diagnostic accuracy of chromosome microarray in children with epilepsy and neurological abnormalities of unknown aetiology

MG-127 Diagnostic accuracy of chromosome microarray in children with epilepsy and neurological abnormalities of unknown aetiology

by Buerki, Sarah E, Slade, Erin, Schlade-Bartusiak, Kamilla, Brown, Lindsay, Rajcan-Separovic, Evica, Eydoux, Patrice, Connolly, Mary B, Demos, Michelle K
Published in Journal of medical genetics (01.11.2015)

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Uniparental disomy: can SNP array data be used for diagnosis?

Uniparental disomy: can SNP array data be used for diagnosis?

by Tucker, Tracy, Schlade-Bartusiak, Kamilla, Eydoux, Patrice, Nelson, Tanya N., Brown, Lindsay
Published in Genetics in medicine (01.08.2012)

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Alternating hypoglycemia and hyperglycemia in a toddler with a homozygous p.R1419H ABCC8 mutation: an unusual clinical picture

Alternating hypoglycemia and hyperglycemia in a toddler with a homozygous p.R1419H ABCC8 mutation: an unusual clinical picture

by Harel, Shira, Cohen, Ana S.A., Hussain, Khalid, Flanagan, Sarah E., Schlade-Bartusiak, Kamilla, Patel, Millan, Courtade, Jaques, Li, Jenny B.W., Van Karnebeek, Clara, Kurata, Harley, Ellard, Sian, Chanoine, Jean-Pierre, Gibson, William T.
Published in Journal of Pediatric Endocrinology & Metabolism (01.03.2015)

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Incidental finding of paternal UPD15 in a child with a deletion of 11q21-q22.3, presenting with developmental delay, coloboma and characteristic dysmorphic features

Incidental finding of paternal UPD15 in a child with a deletion of 11q21-q22.3, presenting with developmental delay, coloboma and characteristic dysmorphic features

by Tucker, Tracy, Steinraths, Michelle, Oh, Tracey, Nelson, Tanya N, Van Allen, Margot I, Brown, Lindsay, Schlade-Bartusiak, Kamilla
Published in Clinical dysmorphology (01.04.2016)

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A minigene approach for analysis of ATP7B splice variants in patients with Wilson disease

A minigene approach for analysis of ATP7B splice variants in patients with Wilson disease

by Wilson, Anna M.E., Schlade-Bartusiak, Kamilla, Tison, Jean-Luc, Macintyre, Georgina, Cox, Diane W.
Published in Biochimie (01.10.2009)

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Significant involvement of chromosome 13q deletions in progression of larynx cancer, detected by comparative genomic hybridization

Significant involvement of chromosome 13q deletions in progression of larynx cancer, detected by comparative genomic hybridization

by Schlade-Bartusiak, Kamilla, Stembalska, Agnieszka, Ramsey, David
Published in Journal of applied genetics (2005)

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