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Pawel Stankiewicz

This is a preview profile on BiomedExperts - the first literature-based scientific social network. It brings the right researchers together and allows them to collaborate online. Collexis and Dell provide the BiomedExperts network of +1.5 Million pre-calculated profiles free of charge to researchers worldwide.

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Chromosomes, Human, Pair 17

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Vissers Lisenka E L M; Bhatt Samarth S; Janssen Irene M; Xia Zhilian; Lalani Seema R; Pfundt Rolph; Derwinska Katarzyna; de Vries Bert B A; Gilissen Christian; Hoischen Alexander; Nesteruk Monika; Wisniowiecka-Kowalnik Barbara; Smyk Marta; Brunner Han G; Cheung Sau Wai; van Kessel Ad Geurts; Veltman Joris A; Stankiewicz Pawel
Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture.
El-Hattab Ayman W; Smolarek Teresa A; Walker Martha E; Schorry Elizabeth K; Immken LaDonna L; Patel Gayle; Abbott Mary-Alice; Lanpher Brendan C; Ou Zhishuo; Kang Sung-Hae L; Patel Ankita; Scaglia Fernando; Lupski James R; Cheung Sau Wai; Stankiewicz Pawel
Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping.
Erez Ayelet; Patel Amina J; Wang Xueqing; Xia Zhilian; Bhatt Samarth S; Craigen William; Cheung Sau Wai; Lewis Richard A; Fang Ping; Davenport Sandra L H; Stankiewicz Pawel; Lalani Seema R
Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorder.

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All Publications

2009: Vissers Lisenka E L M; Bhatt Samarth S; Janssen Irene M; Xia Zhilian; Lalani Seema R; Pfundt Rolph; Derwinska Katarzyna; de Vries Bert B A; Gilissen Christian; Hoischen Alexander; Nesteruk Monika; Wisniowiecka-Kowalnik Barbara; Smyk Marta; Brunner Han G; Cheung Sau Wai; van Kessel Ad Geurts; Veltman Joris A; Stankiewicz Pawel
Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture.
Human molecular genetics 2009;18(19):3579-93.
2009: El-Hattab Ayman W; Smolarek Teresa A; Walker Martha E; Schorry Elizabeth K; Immken LaDonna L; Patel Gayle; Abbott Mary-Alice; Lanpher Brendan C; Ou Zhishuo; Kang Sung-Hae L; Patel Ankita; Scaglia Fernando; Lupski James R; Cheung Sau Wai; Stankiewicz Pawel
Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping.
Human genetics 2009;126(4):589-602.
2009: Erez Ayelet; Patel Amina J; Wang Xueqing; Xia Zhilian; Bhatt Samarth S; Craigen William; Cheung Sau Wai; Lewis Richard A; Fang Ping; Davenport Sandra L H; Stankiewicz Pawel; Lalani Seema R
Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorder.
Neurogenetics 2009;10(4):363-9.
2009: Carvalho Claudia M B; Zhang Feng; Liu Pengfei; Patel Ankita; Sahoo Trilochan; Bacino Carlos A; Shaw Chad; Peacock Sandra; Pursley Amber; Tavyev Y Jane; Ramocki Melissa B; Nawara Magdalena; Obersztyn Ewa; Vianna-Morgante Angela M; Stankiewicz Pawel; Zoghbi Huda Y; Cheung Sau Wai; Lupski James R
Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching.
Human molecular genetics 2009;18(12):2188-203.
2009: Ben-Shachar S; Lanpher B; German J R; Qasaymeh M; Potocki L; Nagamani S C Sreenath; Franco L M; Malphrus A; Bottenfield G W; Spence J E; Amato S; Rousseau J A; Moghaddam B; Skinner C; Skinner S A; Bernes S; Armstrong N; Shinawi M; Stankiewicz P; Patel A; Cheung S-W; Lupski J R; Beaudet A L; Sahoo T
Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders.
Journal of medical genetics 2009;46(6):382-8.
2009: Nagamani Sandesh Chakravarthy Sreenath; Erez Ayelet; Eng Christine; Ou Zhishuo; Chinault Craig; Workman Laura; Coldwell James; Stankiewicz Pawel; Patel Ankita; Lupski James R; Cheung Sau Wai
Interstitial deletion of 6q25.2-q25.3: a novel microdeletion syndrome associated with microcephaly, developmental delay, dysmorphic features and hearing loss.
European journal of human genetics : EJHG 2009;17(5):573-81.
2009: Derwinska Katarzyna; Smyk Marta; Cooper Mitchell Lance; Bader Patricia; Cheung Sau Wai; Stankiewicz Pawel
PTCH1 duplication in a family with microcephaly and mild developmental delay.
European journal of human genetics : EJHG 2009;17(2):267-71.
2009: Derwinska K; Bernaciak J; Wisniowiecka-Kowalnik B; Obersztyn E; Bocian E; Stankiewicz P
Autistic features with speech delay in a girl with an approximately 1.5-Mb deletion in 6q16.1, including GPR63 and FUT9.
Clinical genetics 2009;75(2):199-202.
2008: Lu Xin-Yan; Phung Mai T; Shaw Chad A; Pham Kim; Neil Sarah E; Patel Ankita; Sahoo Trilochan; Bacino Carlos A; Stankiewicz Pawel; Kang Sung-Hae Lee; Lalani Seema; Chinault A Craig; Lupski James R; Cheung Sau W; Beaudet Arthur L
Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysis.
Pediatrics 2008;122(6):1310-8.
2008: Bernaciak Joanna; Szczaluba Krzysztof; Derwinska Katarzyna; Wisniowiecka-Kowalnik Barbara; Bocian Ewa; Sasiadek Maria Malgorzata; Makowska Izabela; Stankiewicz Pawel; Smigiel Robert
Clinical and molecular-cytogenetic evaluation of a family with partial Jacobsen syndrome without thrombocytopenia caused by an approximately 5 Mb deletion del(11)(q24.3).
American journal of medical genetics. Part A 2008;146A(19):2449-54.
2008: Ou Zhishuo; Martin Donna M; Bedoyan Jirair K; Cooper M Lance; Chinault A Craig; Stankiewicz Pawel; Cheung Sau W
Branchiootorenal syndrome and oculoauriculovertebral spectrum features associated with duplication of SIX1, SIX6, and OTX2 resulting from a complex chromosomal rearrangement.
American journal of medical genetics. Part A 2008;146A(19):2480-9.
2008: Nowakowska B; Stankiewicz P; Obersztyn E; Ou Z; Li J; Chinault A C; Smyk M; Borg K; Mazurczak T; Cheung S W; Bocian E
Application of metaphase HR-CGH and targeted Chromosomal Microarray Analyses to genomic characterization of 116 patients with mental retardation and dysmorphic features.
American journal of medical genetics. Part A 2008;146A(18):2361-9.
2008: Shao Lina; Shaw Chad A; Lu Xin-Yan; Sahoo Trilochan; Bacino Carlos A; Lalani Seema R; Stankiewicz Pawel; Yatsenko Svetlana A; Li Yinfeng; Neill Sarah; Pursley Amber N; Chinault A Craig; Patel Ankita; Beaudet Arthur L; Lupski James R; Cheung Sau W
Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 cases.
American journal of medical genetics. Part A 2008;146A(17):2242-51.
2008: Smyk M; Obersztyn E; Nowakowska B; Nawara M; Cheung S W; Mazurczak T; Stankiewicz P; Bocian E
Different-sized duplications of Xq28, including MECP2, in three males with mental retardation, absent or delayed speech, and recurrent infections.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2008;147B(6):799-806.
2008: Purandare Smita M; Mendoza-Londono Roberto; Yatsenko Svetlana A; Napierala Dobrawa; Scott Daryl A; Sibai Tarek; Casas Kari; Wilson Patrick; Lee Jiyun; Muneer Razia; Leonard Joe C; Ramji Faridali G; Lachman Ralph; Li Shibo; Stankiewicz Pawel; Lee Brendan; Mulvihill John J
De novo three-way chromosome translocation 46,XY,t(4;6;21)(p16;p21.1;q21) in a male with cleidocranial dysplasia.
American journal of medical genetics. Part A 2008;146A(4):453-8.
2008: Shchelochkov Oleg A; Cooper M Lance; Ou Zhishuo; Peacock Sandra; Yatsenko Svetlana A; Brown Chester W; Fang Ping; Stankiewicz Pawel; Cheung Sau Wai
Mosaicism for r(X) and der(X)del(X)(p11.23)dup(X)(p11.21p11.22) provides insight into the possible mechanism of rearrangement.
Molecular Cytogenetics 2008;1(1):16.
2007: Borg Katarzyna; Nowakowska Beata; Obersztyn Ewa; Cheung Sau Wai; Brycz-Witkowska Joanna; Korniszewski Lech; Mazurczak Tadeusz; Stankiewicz Pawel; Bocian Ewa
Complex balanced translocation t(1;5;7)(p32.1;q14.3;p21.3) and two microdeletions del(1)(p31.1p31.1) and del(7)(p14.1p14.1) in a patient with features of Greig cephalopolysyndactyly and mental retardation.
American journal of medical genetics. Part A 2007;143A(22):2738-43.
2007: Babcock Melanie; Yatsenko Svetlana; Hopkins Janet; Brenton Matthew; Cao Qing; de Jong Pieter; Stankiewicz Pawel; Lupski James R; Sikela James M; Morrow Bernice E
Hominoid lineage specific amplification of low-copy repeats on 22q11.2 (LCR22s) associated with velo-cardio-facial/digeorge syndrome.
Human molecular genetics 2007;16(21):2560-71.
2007: Nowakowska Beata; Kutkowska-Kazmierczak Anna; Stankiewicz Pawel; Bocian Ewa; Obersztyn Ewa; Ou Zhishuo; Cheung Sau Wai; Cai Wei-Wen
A girl with deletion 9q22.1-q22.32 including the PTCH and ROR2 genes identified by genome-wide array-CGH.
American journal of medical genetics. Part A 2007;143A(16):1885-9.
2007: Cheung Sau W; Shaw Chad A; Scott Daryl A; Patel Ankita; Sahoo Trilochan; Bacino Carlos A; Pursley Amber; Li Jiangzhen; Erickson Robert; Gropman Andrea L; Miller David T; Seashore Margretta R; Summers Anne M; Stankiewicz Pawel; Chinault A Craig; Lupski James R; Beaudet Arthur L; Sutton V Reid
Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics.
American journal of medical genetics. Part A 2007;143A(15):1679-86.
2007: Smyk Marta; Berg Jonathan S; Pursley Amber; Curtis Fiona K; Fernandez Bridget A; Bien-Willner Gabriel A; Lupski James R; Cheung Sau Wai; Stankiewicz Pawel
Male-to-female sex reversal associated with an approximately 250 kb deletion upstream of NR0B1 (DAX1).
Human genetics 2007;122(1):63-70.
2007: Vissers L E L M; Stankiewicz P; Yatsenko S A; Crawford E; Creswick H; Proud V K; de Vries B B A; Pfundt R; Marcelis C L M; Zackowski J; Bi W; van Kessel A Geurts; Lupski J R; Veltman J A
Complex chromosome 17p rearrangements associated with low-copy repeats in two patients with congenital anomalies.
Human genetics 2007;121(6):697-709.
2007: Stankiewicz Pawel; Beaudet Arthur L
Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation.
Current opinion in genetics & development 2007;17(3):182-92.
2007: Coskun Ayse K; van Maanen Marc; Janka David; Stockton David; Stankiewicz Pawel; Yatsenko Svetlana; Sutton Richard E
Isolation and characterization of mouse-human microcell hybrid cell clones permissive for infectious HIV particle release.
Virology 2007;362(2):283-93.
2007: Schlaubitz Silke; Yatsenko Svetlana A; Smith Laurie D; Keller Kory L; Vissers Lisenka E; Scott Daryl A; Cai Wei Wen; Reardon William; Abdul-Rahman Omar A; Lammer Edward J; Lifchez Caroline A; Magenis Ellen; Veltman Joris A; Stankiewicz Pawel; Zabel Bernhard U; Lee Brendan
Ovotestes and XY sex reversal in a female with an interstitial 9q33.3-q34.1 deletion encompassing NR5A1 and LMX1B causing features of Genitopatellar syndrome.
American journal of medical genetics. Part A 2007;143A(10):1071-81.
2007: Bien-Willner Gabriel A; Stankiewicz Pawel; Lupski James R
SOX9cre1, a cis-acting regulatory element located 1.1 Mb upstream of SOX9, mediates its enhancement through the SHH pathway.
Human molecular genetics 2007;16(10):1143-56.
2007: Potocki Lorraine; Bi Weimin; Treadwell-Deering Diane; Carvalho Claudia M B; Eifert Anna; Friedman Ellen M; Glaze Daniel; Krull Kevin; Lee Jennifer A; Lewis Richard Alan; Mendoza-Londono Roberto; Robbins-Furman Patricia; Shaw Chad; Shi Xin; Weissenberger George; Withers Marjorie; Yatsenko Svetlana A; Zackai Elaine H; Stankiewicz Pawel; Lupski James R
Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype.
American journal of human genetics 2007;80(4):633-49.
2007: Smyk M; Obersztyn E; Nowakowska B; Bocian E; Cheung S W; Mazurczak T; Stankiewicz P
Recurrent SOX9 deletion campomelic dysplasia due to somatic mosaicism in the father.
American journal of medical genetics. Part A 2007;143A(8):866-70.
2007: Babcock Melanie; Yatsenko Svetlana; Stankiewicz Pawel; Lupski James R; Morrow Bernice E
AT-rich repeats associated with chromosome 22q11.2 rearrangement disorders shape human genome architecture on Yq12.
Genome research 2007;17(4):451-60.
2007: Leipoldt M; Erdel M; Bien-Willner G A; Smyk M; Theurl M; Yatsenko S A; Lupski J R; Lane A H; Shanske A L; Stankiewicz P; Scherer G
Two novel translocation breakpoints upstream of SOX9 define borders of the proximal and distal breakpoint cluster region in campomelic dysplasia.
Clinical genetics 2007;71(1):67-75.
2007: Pietrzak Joanna; Mrasek Kristin; Obersztyn Ewa; Stankiewicz Pawel; Kosyakova Nadezda; Weise Anja; Cheung Sau Wai; Cai Wei Wen; von Eggeling Ferdinand; Mazurczak Tadeusz; Bocian Ewa; Liehr Thomas
Molecular cytogenetic characterization of eight small supernumerary marker chromosomes originating from chromosomes 2, 4, 8, 18, and 21 in three patients.
Journal of applied genetics 2007;48(2):167-75.
2007: Lu Xinyan; Shaw Chad A; Patel Ankita; Li Jiangzhen; Cooper M Lance; Wells William R; Sullivan Cathy M; Sahoo Trilochan; Yatsenko Svetlana A; Bacino Carlos A; Stankiewicz Pawel; Ou Zhishu; Chinault A Craig; Beaudet Arthur L; Lupski James R; Cheung Sau W; Ward Patricia A
Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases.
PloS one 2007;2(3):e327.
2006: Sahoo Trilochan; Cheung Sau Wai; Ward Patricia; Darilek Sandra; Patel Ankita; del Gaudio Daniela; Kang Sung Hae L; Lalani Seema R; Li Jiangzhen; McAdoo Sallie; Burke Audrey; Shaw Chad A; Stankiewicz Pawel; Chinault A Craig; Van den Veyver Ignatia B; Roa Benjamin B; Beaudet Arthur L; Eng Christine M
Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization.
Genetics in medicine : official journal of the American College of Medical Genetics 2006;8(11):719-27.
2006: Ou Zhishuo; Jarmuz Malgorzata; Sparagana Steven P; Michaud Jacques; Décarie Jean-Claude; Yatsenko Svetlana A; Nowakowska Beata; Furman Patti; Shaw Chad A; Shaffer Lisa G; Lupski James R; Chinault A Craig; Cheung Sau W; Stankiewicz Pawel
Evidence for involvement of TRE-2 (USP6) oncogene, low-copy repeat and acrocentric heterochromatin in two families with chromosomal translocations.
Human genetics 2006;120(2):227-37.
2006: Lee Jennifer A; Inoue Ken; Cheung Sau W; Shaw Chad A; Stankiewicz Pawel; Lupski James R
Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease.
Human molecular genetics 2006;15(14):2250-65.
2006: Yan Jiong; Saifi Gulam Mustafa; Wierzba Tomasz H; Withers Marjorie; Bien-Willner Gabriel A; Limon Janusz; Stankiewicz Pawel; Lupski James R; Wierzba Jolanta
Mutational and genotype-phenotype correlation analyses in 28 Polish patients with Cornelia de Lange syndrome.
American journal of medical genetics. Part A 2006;140(14):1531-41.
2006: Stankiewicz Pawel; Kuechler Alma; Eller C Daniel; Sahoo Trilochan; Baldermann Christiane; Lieser Ulla; Hesse Martin; Gläser Christiane; Hagemann Monika; Yatsenko Svetlana A; Liehr Thomas; Horsthemke Bernhard; Claussen Uwe; Marahrens York; Lupski James R; Hansmann Ingo
Minimal phenotype in a girl with trisomy 15q due to t(X;15)(q22.3;q11.2) translocation.
American journal of medical genetics. Part A 2006;140(5):442-52.
2006: Borg Katarzyna; Bocian Ewa; Stankiewicz Pawel; Obersztyn Ewa; Kruczek Anna; Nowakowska Beata; Ilnicka Alicja; Mazurczak Tadeusz
[Cytogenetic-molecular analysis of balanced chromosomal rearrangements in nine patients with intellectual disability, dysmorphic features and congenital abnormalities]
Medycyna wieku rozwojowego 2006;10(1 Pt 2):227-46.
2006: Oldak M; Waligora J; Gieruszczak-Bialek D; Skorka A; Bocian E; Brycz-Witkowska J; Stankiewicz P; Korniszewski L
Congenital anomalies and developmental delay in a boy with double chromosome 6 derived supernumerary marker.
Genetic counseling (Geneva, Switzerland) 2006;17(1):29-34.
2005: Lupski James R; Stankiewicz Pawel
Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes.
PLoS genetics 2005;1(6):e49.
2005: Tonk Vijay S; Wilson Golder N; Yatsenko Svetlana A; Stankiewicz Pawel; Lupski James R; Schutt Robert C; Northup J K; Velagaleti Gopalrao V N
Molecular cytogenetic characterization of a familial der(1)del(1)(p36.33)dup(1)(p36.33p36.22) with variable phenotype.
American journal of medical genetics. Part A 2005;139A(2):136-40.
2005: Borg Katarzyna; Stankiewicz Pawel; Bocian Ewa; Kruczek Anna; Obersztyn Ewa; Lupski James R; Mazurczak Tadeusz
Molecular analysis of a constitutional complex genome rearrangement with 11 breakpoints involving chromosomes 3, 11, 12, and 21 and a approximately 0.5-Mb submicroscopic deletion in a patient with mild mental retardation.
Human genetics 2005;118(2):267-75.
2005: Yatsenko Svetlana A; Treadwell-Deering Diane; Krull Kevin; Lewis Richard Alan; Glaze Daniel; Stankiewicz Pawel; Lupski James R; Potocki Lorraine
Trisomy 17p10-p12 due to mosaic supernumerary marker chromosome: delineation of molecular breakpoints and clinical phenotype, and comparison to other proximal 17p segmental duplications.
American journal of medical genetics. Part A 2005;138A(2):175-80.
2005: Stankiewicz Pawel; Thiele Hannelore; Schlicker Mike; Cseke-Friedrich Andrea; Bartel-Friedrich Sylva; Yatsenko Svetlana A; Lupski James R; Hansmann Ingo
Duplication of Xq26.2-q27.1, including SOX3, in a mother and daughter with short stature and dyslalia.
American journal of medical genetics. Part A 2005;138(1):11-7.
2005: Bien-Willner Gabriel A; Stankiewicz Pawel; Lupski James R; Northup Jill K; Velagaleti Gopalrao V N
Interphase FISH screening for the LCR-mediated common rearrangement of isochromosome 17q in primary myelofibrosis.
American journal of hematology 2005;79(4):309-13.
2005: Hwang Kwei Shuai; Pearson Margaret A; Stankiewicz Pawel; Lennon P Alan; Cooper M Lance; Wu Jessica; Ou Zhishuo; Cai Wei-Wen; Patel Ankita; Cheung Sau Wai
Cryptic unbalanced translocation t(17;18)(p13.2;q22.3) identified by subtelomeric FISH and defined by array-based comparative genomic hybridization in a patient with mental retardation and dysmorphic features.
American journal of medical genetics. Part A 2005;137(1):88-93.
2005: Cheung Sau W; Shaw Chad A; Yu Wei; Li Jiangzham; Ou Zhishuo; Patel Ankita; Yatsenko Svetlana A; Cooper Mitchell L; Furman Patti; Stankiewicz Pawel; Lupski James R; Chinault A Craig; Beaudet Arthur L
Development and validation of a CGH microarray for clinical cytogenetic diagnosis.
Genetics in medicine : official journal of the American College of Medical Genetics 2005;7(6):422-32.
2005: Cheung Sau W; Shaw Chad A; Yu Wei; Li Jiangzham; Ou Zhishuo; Patel Ankita; Yatsenko Svetlana A; Cooper Mitchell L; Furman Patti; Stankiewicz Pawel; Lupski James R; Chinault A Craig; Beaudet Arthur L
Development and validation of a CGH microarray for clinical cytogenetic diagnosis.
Genetics in medicine : official journal of the American College of Medical Genetics 2005;7(6):422-32.
2005: Scott D A; Cooper M L; Stankiewicz P; Patel A; Potocki L; Cheung S W
Congenital diaphragmatic hernia in WAGR syndrome.
American journal of medical genetics. Part A 2005;134(4):430-3.
2005: Yatsenko S A; Cheung S W; Scott D A; Nowaczyk M J M; Tarnopolsky M; Naidu S; Bibat G; Patel A; Leroy J G; Scaglia F; Stankiewicz P; Lupski J R
Deletion 9q34.3 syndrome: genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly.
Journal of medical genetics 2005;42(4):328-35.
2005: Velagaleti Gopalrao V N; Bien-Willner Gabriel A; Northup Jill K; Lockhart Lillian H; Hawkins Judy C; Jalal Syed M; Withers Marjorie; Lupski James R; Stankiewicz Pawel
Position effects due to chromosome breakpoints that map approximately 900 Kb upstream and approximately 1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia.
American journal of human genetics 2005;76(4):652-62.
2005: Mishaan Ana M Avalos; Mason Edward O; Martinez-Aguilar Gerardo; Hammerman Wendy; Propst Jennifer J; Lupski James R; Stankiewicz Pawel; Kaplan Sheldon L; Hulten Kristina
Emergence of a predominant clone of community-acquired Staphylococcus aureus among children in Houston, Texas.
The Pediatric infectious disease journal 2005;24(3):201-6.
2005: Kurotaki Naohiro; Stankiewicz Pawel; Wakui Keiko; Niikawa Norio; Lupski James R
Sotos syndrome common deletion is mediated by directly oriented subunits within inverted Sos-REP low-copy repeats.
Human molecular genetics 2005;14(4):535-42.
2005: Posmyk R; Panasiuk B; Yatsenko S A; Stankiewicz P; Midro A T
A natural history of a child with monosomy 5p syndrome (Cat-cry/Cri-du-chat syndrome) during the 18 years of follow-up.
Genetic counseling (Geneva, Switzerland) 2005;16(1):17-25.
2004: Stankiewicz Pawell; Shaw Christine J; Withers Marjorie; Inoue Ken; Lupski James R
Serial segmental duplications during primate evolution result in complex human genome architecture.
Genome research 2004;14(11):2209-20.
2004: Yatsenko S A; Yatsenko A N; Szigeti K; Craigen W J; Stankiewicz P; Cheung S W; Lupski J R
Interstitial deletion of 10p and atrial septal defect in DiGeorge 2 syndrome.
Clinical genetics 2004;66(2):128-36.
2004: Shaw Christine J; Stankiewicz Pawel; Bien-Willner Gabriel; Bello Scott C; Shaw Chad A; Carrera Marta; Perez Jurado Luis; Estivill Xavier; Lupski James R
Small marker chromosomes in two patients with segmental aneusomy for proximal 17p.
Human genetics 2004;115(1):1-7.
2004: Bocian Ewa; Hélias-Rodzewicz Zofia; Suchenek Kamila; Obersztyn Ewa; Kutkowska-Kazmierczak Anna; Stankiewicz Pawel; Kostyk Ewa; Mazurczak Tadeusz
Subtelomeric rearrangements: results from FISH studies in 84 families with idiopathic mental retardation.
Medical science monitor : international medical journal of experimental and clinical research 2004;10(4):CR143-51.
2004: Shaw C J; Shaw C A; Yu W; Stankiewicz P; White L D; Beaudet A L; Lupski J R
Comparative genomic hybridisation using a proximal 17p BAC/PAC array detects rearrangements responsible for four genomic disorders.
Journal of medical genetics 2004;41(2):113-9.
2004: Midro Alina T; Panasiuk Barbara; Tümer Zeynep; Stankiewicz Pawel; Silahtaroglu Asli; Lupski James R; Zemanova Zuzana; Stasiewicz-Jarocka Beata; Hubert Ewa; Tarasów Eugeniusz; Famulski Waldemar; Zadrozna-Tolwinska Barbara; Wasilewska Ewa; Kirchhoff Marie; Kalscheuer Vera; Michalova Kyra; Tommerup Niels
Interstitial deletion 9q22.32-q33.2 associated with additional familial translocation t(9;17)(q34.11;p11.2) in a patient with Gorlin-Goltz syndrome and features of Nail-Patella syndrome.
American journal of medical genetics. Part A 2004;124A(2):179-91.
2004: Shaw Christine J; Stankiewicz Pawel; Christodoulou John; Smith Ellie; Jones Kristi; Lupski James R
A girl with duplication 17p10-p12 associated with a dicentric chromosome.
American journal of medical genetics. Part A 2004;124A(2):173-8.
2003: Potocki Lorraine; Shaw Christine J; Stankiewicz Pawel; Lupski James R
Variability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome [del(17)(p11.2p11.2)].
Genetics in medicine : official journal of the American College of Medical Genetics 2003;5(6):430-4.
2003: Stankiewicz Pawel; Shaw Christine J; Dapper Jason D; Wakui Keiko; Shaffer Lisa G; Withers Marjorie; Elizondo Leah; Park Sung-Sup; Lupski James R
Genome architecture catalyzes nonrecurrent chromosomal rearrangements.
American journal of human genetics 2003;72(5):1101-16.
2003: Stankiewicz P; Inoue K; Bi W; Walz K; Park S S; Kurotaki N; Shaw C J; Fonseca P; Yan J; Lee J A; Khajavi M; Lupski J R
Genomic disorders: genome architecture results in susceptibility to DNA rearrangements causing common human traits.
Cold Spring Harbor symposia on quantitative biology 2003;68():445-54.
2003: Stankiewicz P; Cheung S W; Shaw C J; Saleki R; Szigeti K; Lupski J R
The donor chromosome breakpoint for a jumping translocation is associated with large low-copy repeats in 21q21.3.
Cytogenetic and genome research 2003;101(2):118-23.
2002: Hélias-Rodzewicz Z; Bocian E; Stankiewicz P; Obersztyn E; Kostyk E; Jakubów-Durska K; Kutkowska-Kazmierczak A; Mazurczak T
Subtelomeric rearrangements detected by FISH in three of 33 families with idiopathic mental retardation and minor physical anomalies.
Journal of medical genetics 2002;39(9):e53.
2002: Stankiewicz Pawel; Lupski James R
Molecular-evolutionary mechanisms for genomic disorders.
Current opinion in genetics & development 2002;12(3):312-9.
2002: Park Sung-Sup; Stankiewicz Pawel; Bi Weimin; Shaw Christine; Lehoczky Jessica; Dewar Ken; Birren Bruce; Lupski James R
Structure and evolution of the Smith-Magenis syndrome repeat gene clusters, SMS-REPs.
Genome research 2002;12(5):729-38.
2002: Bi Weimin; Yan Jiong; Stankiewicz Pawe; Park Sung-Sup; Walz Katherina; Boerkoel Cornelius F; Potocki Lorraine; Shaffer Lisa G; Devriendt Koen; Nowaczyk Magorzata J M; Inoue Ken; Lupski James R
Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse.
Genome research 2002;12(5):713-28.
2002: Stankiewicz Pawel; Lupski James R
Genome architecture, rearrangements and genomic disorders.
Trends in genetics : TIG 2002;18(2):74-82.
2001: Stankiewicz P; Parka S S; Holder S E; Waters C S; Palmer R W; Berend S A; Shaffer L G; Potocki L; Lupski J R
Trisomy 17p10-p12 resulting from a supernumerary marker chromosome derived from chromosome 17: molecular analysis and delineation of the phenotype.
Clinical genetics 2001;60(5):336-44.
2001: Stankiewicz P; Rujner J; Löffler C; Krüger A; Nimmakayalu M; Pilacik B; Krajewska-Walasek M; Gutkowska A; Hansmann I; Giannakudis I
Alagille syndrome associated with a paracentric inversion 20p12.2p13 disrupting the JAG1 gene.
American journal of medical genetics 2001;103(2):166-71.
2001: Stankiewicz P; Thiele H; Baldermann C; Krüger A; Giannakudis I; Dörr S; Werner N; Kunz J; Rappold G A; Hansmann I
Phenotypic findings due to trisomy 7p15.3-pter including the TWIST locus.
American journal of medical genetics 2001;103(1):56-62.
2001: Stankiewicz P; Thiele H; Giannakudis I; Schlicker M; Baldermann C; Krüger A; Dörr S; Starke H; Hansmann I
Kabuki syndrome-like features associated with a small ring chromosome X and XIST gene expression.
American journal of medical genetics 2001;102(3):286-92.
2001: Stankiewicz P; Park S S; Inoue K; Lupski J R
The evolutionary chromosome translocation 4;19 in Gorilla gorilla is associated with microduplication of the chromosome fragment syntenic to sequences surrounding the human proximal CMT1A-REP.
Genome research 2001;11(7):1205-10.
2001: Stankiewicz P; Brozek I; Hélias-Rodzewicz Z; Wierzba J; Pilch J; Bocian E; Balcerska A; Wozniak A; Kardas I; Wirth J; Mazurczak T; Limon J
Clinical and molecular-cytogenetic studies in seven patients with ring chromosome 18.
American journal of medical genetics 2001;101(3):226-39.
2001: Stankiewicz P; Hélias-Rodzewicz Z; Jakubów-Durska K; Bocian E; Obersztyn E; Rappold G A; Mazurczak T
Cytogenetic and molecular characterization of two isodicentric Y chromosomes.
American journal of medical genetics 2001;101(1):20-5.
2001: Edelmann L; Stankiewicz P; Spiteri E; Pandita R K; Shaffer L; Lupski J R; Morrow B E;
Two functional copies of the DGCR6 gene are present on human chromosome 22q11 due to a duplication of an ancestral locus.
Genome research 2001;11(2):208-17.
2001: Boerkoel C F; Takashima H; Stankiewicz P; Garcia C A; Leber S M; Rhee-Morris L; Lupski J R
Periaxin mutations cause recessive Dejerine-Sottas neuropathy.
American journal of human genetics 2001;68(2):325-33.
2000: Stankiewicz P; Bocian E; Jakubów-Durska K; Obersztyn E; Lato E; Starke H; Mroczek K; Mazurczak T
Identification of supernumerary marker chromosomes derived from chromosomes 5, 6, 19, and 20 using FISH.
Journal of medical genetics 2000;37(2):114-20.
1998: Dmochowska A; Stankiewicz P; Golik P; Stepien P P; Bocian E; Hansmann I; Bartnik E
Assignment1 of SUPV3L1 to human chromosome band 10q22.1 by in situ hybridization.
Cytogenetics and cell genetics 1998;83(1-2):84-5.
1997: Stankiewicz P; Kostyk E; Bocian E; Stanczak H; Parczewska J; Piatkowska E; Mazurczak T; Pietrzyk J J
Familial four breakpoint complex chromosomal rearrangement as a cause of monosomy 9p22-->pter and trisomy 10p11.2-->pter and 11q21 analysed by dual and triple colour FISH.
Journal of medical genetics 1997;34(8):696-9.
1996: Obersztyn E; Stankiewicz P; Bocian E; Stanczak H; Mazurczak T
[Partial trisomy of chromosome 13--diagnosis confirmed with the FISH in situ hybridization technique]
Pediatria polska 1996;71(3):247-52.
1996: Stankiewicz P; Korniszewski L; Bocian E; Stanczak H
[Marker chromosomes as a product of familial translocation (11;22) identified with molecular cytogenetic methods]
Pediatria polska 1996;71(3):241-5.
1996: Bocian E; Stanczak H; Wisniewski A; Mazurczak T; Stankiewicz P
[Use of molecular cytogenetic techniques for establishing the origin of chromosome markers in patients with Turner phenotype]
Pediatria polska 1996;71(3):203-9.

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