Małgorzata J. M. Nowaczyk: search on Z-Library

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1

Smith-Lemli-Opitz (RHS) syndrome: holoprosencephaly and homozygous IVS8-1G→C genotype

Małgorzata J.M. Nowaczyk, Sandra A. Farrell, Wilma L. Sirkin, Leah Velsher, Patrycja A. Krakowiak, John S. Waye, Forbes D. Porter

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 267 KB

english, 2001

2

Speech and language impairment and oromotor dyspraxia due to deletion of 7q31 that involves FOXP2

Susan Zeesman, Małgorzata J.M. Nowaczyk, Ikuko Teshima, Wendy Roberts, Janis Oram Cardy, Jessica Brian, Lili Senman, Lars Feuk, Lucy R. Osborne, Stephen W. Scherer

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 180 KB

english, 2006

3

Growth charts for individuals with Smith–Lemli–Opitz syndrome

Ryan W.Y. Lee, John McGready, Sandra K. Conley, Nicole M. Yanjanin, Małgorzata J.M. Nowaczyk, Forbes D. Porter

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 1.46 MB

english, 2012

4

Absence of a Paternally Inherited FOXP2 Gene in Developmental Verbal Dyspraxia

Lars Feuk, Aino Kalervo, Marita Lipsanen-Nyman, Jennifer Skaug, Kazuhiko Nakabayashi, Brenda Finucane, Danielle Hartung, Micheil Innes, Batsheva Kerem, Małgorzata J. Nowaczyk, Joseph Rivlin, Wendy Rob

Journal:

The American Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 208 KB

english, 2006

5

The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 ofSRCAP

Nikkel, Sarah M, Dauber, Andrew, de Munnik, Sonja, Connolly, Meghan, Hood, Rebecca L, Caluseriu, Oana, Hurst, Jane, Kini, Usha, Nowaczyk, Malgorzata J, Afenjar, Alexandra, Albrecht, Beate, Allanson, J

Journal:

Orphanet Journal of Rare Diseases

Year:

2013

Language:

english

File:

PDF, 5.33 MB

english, 2013

6

Half As Sad: A Plea for Narrative Medicine in Pediatric Residency Training

Diorio, Caroline, Nowaczyk, Małgorzata

Journal:

Year:

2018

Language:

english

File:

PDF, 1012 KB

english, 2018

7

Multiple congenital anomalies in a fetus with 45,X/46,X,r(X)(p11.22q12) mosaicism

Nowaczyk, Malgorzata J.M., Ramsay, Jennifer A., Mohide, Patrick, Tomkins, Darrell J.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 163 KB

english, 1998

8

Schimke immunoosseous dysplasia complicated by moyamoya phenomenon

Boerkoel, Cornelius F., Nowaczyk, Malgorzata J.M., Blaser, Susan I., Meschino, Wendy S., Weksberg, Rosanna

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 212 KB

english, 1998

9

Smith-Lemli-Opitz syndrome: phenotypic extreme with minimal clinical findings

Nowaczyk, Malgorzata J.M., Whelan, Donald T., Hill, Robert E.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 415 KB

english, 1998

10

Plasma measurement of 7-dehydrocholesterol to detect carriers of Smith–Lemli–Opitz syndrome

Małgorzata J. M. Nowaczyk

Journal:

Prenatal Diagnosis

Year:

2000

Language:

english

File:

PDF, 31 KB

english, 2000

11

Wolf-Hirschorn syndrome resulting from partial monosomy 4p/trisomy 9p

Jie Xu, Viola Freeman, Ronald F. Carter, Bosco Paes, Tim Heshka, Małgorzata J.M. Nowaczyk

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 467 KB

english, 2000

12

Mutation analysis and description of sixteen RSH/Smith-Lemli-Opitz syndrome patients: Polymerase chain reaction–based assays to simplify genotyping

Patrycja A. Krakowiak, Ngozi A. Nwokoro, Christopher A. Wassif, Kevin P. Battaile, Małgorzata J.M. Nowaczyk, William E. Connor, Cheryl Maslen, Robert D. Steiner, Forbes D. Porter

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 728 KB

english, 2000

13

Difficult prenatal diagnosis in mild Smith-Lemli-Opitz syndrome

Małgorzata J.M. Nowaczyk, Tim Heshka, Lisa E. Kratz, Richard E. Kelley

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 70 KB

english, 2000

14

Incidence of Smith-Lemli-Opitz syndrome in Ontario, Canada

Małgorzata J.M. Nowaczyk, Donna McCaughey, Donald T. Whelan, Forbes D. Porter

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 79 KB

english, 2001

15

Smith-Lemli-Opitz syndrome: New mutation with a mild phenotype

Chitra Prasad, Sandra Marles, Asuri N. Prasad, Sarah Nikkel, Sally Longstaffe, Deborah Peabody, Barry Eng, Sarah Wright, John S. Waye, Małgorzata J.M. Nowaczyk

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 229 KB

english, 2002

16

DHCR7 genotypes of cousins with Smith-Lemli-Opitz syndrome

Małgorzata J.M. Nowaczyk, Timothy Heshka, Barry Eng, Annette J. Feigenbaum, John S. Waye

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 63 KB

english, 2001

17

Frequency and ethnic distribution of the common DHCR7 mutation in Smith-Lemli-Opitz syndrome

Małgorzata J.M. Nowaczyk, Lisa M. Nakamura, Barry Eng, Forbes D. Porter, John S. Waye

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 103 KB

english, 2001

18

Rapid molecular prenatal diagnosis of Smith-Lemli-Opitz syndrome

Małgorzata J.M. Nowaczyk, Diana Martin Garcia, Barry Eng, John S. Waye

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 63 KB

english, 2001

19

Adrenal insufficiency and hypertension in a newborn infant with Smith-Lemli-Opitz syndrome

Małgorzata J.M. Nowaczyk, Victoria M. Siu, Patrycja A. Krakowiak, Forbes D. Porter

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 71 KB

english, 2001

20

Reply to correspondence from Martínez-Frías et al.—“Incidence of Smith-Lemli-Opitz syndrome in Ontario, Canada”

Małgorzata J.M. Nowaczyk, Donna McCaughey, Donald T. Whelan, Forbes D. Porter

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 29 KB

english, 2003

21

Carrier frequency of the RSH/Smith-Lemli-Opitz IVS8-1G>C mutation in African Americans

Brooke S. Wright, Ngozi A. Nwokoro, Christopher A. Wassif, Forbes D. Porter, John S. Waye, Barry Eng, Małgorzata J.M. Nowaczyk

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 57 KB

english, 2003

22

Fetus with renal agenesis and smith-Lemli-Opitz syndrome

Małgorzata J.M. Nowaczyk, Barry Eng, John S. Waye, Sandra A. Farrell, Wilma L. Sirkin

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 135 KB

english, 2003

23

De novo 1q32q44 duplication and distal 1q trisomy syndrome

Małgorzata J.M. Nowaczyk, Jane Bayani, Viola Freeman, John Watts, Jeremy Squire, Jie Xu

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 209 KB

english, 2003

24

Oral-facial-digital syndrome VII is oral-facial-digital syndrome I: A clarification

Malgorzata J.M. Nowaczyk, Susan Zeesman, Donald T. Whelan, Victoria Wright, Sally A. Feather

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 126 KB

english, 2003

25

Boy with 47,XXY,del(15)(q11.2q13) karyotype and Prader–Willi syndrome: A new case and review of the literature

Małgorzata J.M. Nowaczyk, Susan Zeesman, April Kam, Sherryl A.M. Taylor, Ronald F. Carter, Donald T. Whelan

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 87 KB

english, 2004

26

Founder effect for the T93M DHCR7 mutation in Smith-Lemli-Opitz syndrome

Małgorzata J.M. Nowaczyk, Diana Martin-Garcia, Angel Aquino-Perna, Miguel Rodriguez-Vazquez, Donna McCaughey, Barry Eng, Lisa M. Nakamura, John S. Waye

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 59 KB

english, 2004

27

Infantile metachromatic leukodystrophy (MLD) in a compound heterozygote for the c.459 + 1G > A mutation and a complete deletion of the ARSA gene

Barry Eng, Tim Heshka, Mark A. Tarnopolsky, Lisa M. Nakamura, Małgorzata J.M. Nowaczyk, John S. Waye

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 96 KB

english, 2004

28

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

Kamilla Schlade-Bartusiak, Teresa Costa, Anne M. Summers, Malgorzata J.M. Nowaczyk, Diane W. Cox

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 206 KB

english, 2005

29

DHCR7 mutation carrier rates and prevalence of the RSH/Smith-Lemli-Opitz syndrome: Where are the patients?

Małgorzata J.M. Nowaczyk, John S. Waye, James D. Douketis

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 98 KB

english, 2006

30

De novo mutation of the DHCR7 gene in a fetus with severe Smith–Lemli–Opitz (or RSH) syndrome

John S. Waye, Barry Eng, Murray A. Potter, Małgorzata J.M. Nowaczyk, Deborah McFadden, Sylvie Langlois

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 96 KB

english, 2007

31

Paternal deletion 6q24.3: A new congenital anomaly syndrome associated with intrauterine growth failure, early developmental delay and characteristic facial appearance

Małgorzata J.M. Nowaczyk, Melissa T. Carter, Jie Xu, Marlene Huggins, Gordana Raca, Soma Das, Christa Lese Martin, Stuart Schwartz, Robert Rosenfield, Darrel J. Waggoner

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 150 KB

english, 2008

32

Molecular breakpoint mapping of 6q11-q14 interstitial deletions in seven patients

Jia-Chi Wang, Linda Dang, Brenda Lomax, Lesley Turner, Mary Shago, Ahmad S. Teebi, Regan Klatt, Patrick M. MacLeod, Siu-Li Yong, Malgorzata J.M. Nowaczyk, Patrice Eydoux

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 312 KB

english, 2009

33

4.3-Mb triplication of 4q32.1–q32.2: Report of a family through two generations

Jia-Chi Wang, Thomas Fisker, Linda Dang, Ikuko Teshima, Małgorzata J.M. Nowaczyk

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 145 KB

english, 2009

34

The blemmy: A medieval grotesque inspired by iniencephaly?

Małgorzata J.M. Nowaczyk

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 104 KB

english, 2010

35

Epiphyseal stippling is not a feature of 7-dehydrocholesterol reductase deficiency (Smith-Lemli-Opitz syndrome)

Małgorzata J.M. Nowaczyk

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 57 KB

english, 2011

36

Identification of nine novel DHCR7 missense mutations in patients with Smith-Lemli-Opitz syndrome (SLOS)

John S. Waye, Patrycja A. Krakowiak, Christopher A. Wassif, Allison L. Sterner, Barry Eng, Lisa M. Nakamura, Małgorzata J.M. Nowaczyk, Forbes D. Porter

Journal:

Year:

2005

Language:

english

File:

PDF, 159 KB

english, 2005

37

Fibers with polypyrrole and polythiophene phases for isolation and determination of adrenolytic drugs from human plasma by SPME-HPLC

Pawel Olszowy, Malgorzata Szultka, Tomasz Ligor, Jacek Nowaczyk, Boguslaw Buszewski

Journal:

Journal of Chromatography B

Year:

2010

Language:

english

File:

PDF, 499 KB

english, 2010

38

Artificial neural networks analysis used to evaluate the molecular interactions between selected drugs and human α1-acid glycoprotein

Adam Buciński, Małgorzata Wnuk, Krzysztof Goryński, Anna Giza, Joanna Kochańczyk, Alicja Nowaczyk, Tomasz Bączek, Antoni Nasal

Journal:

Journal of Pharmaceutical and Biomedical Analysis

Year:

2009

Language:

english

File:

PDF, 281 KB

english, 2009

39

Holoprosencephaly, sacral anomalies, and situs ambiguus in an infant with partial monosomy 7q/trisomy 2p and SHH and HLXB9 haploinsufficiency

Małgorzata Jm Nowaczyk, Marlene J Huggins, Darrell J Tomkins, Elena Rossi, Jennifer A Ramsay, John Woulfe, Stephen W Scherer, Elena Belloni

Journal:

Clinical Genetics

Year:

2000

Language:

english

File:

PDF, 248 KB

english, 2000

40

Identifying Smith–Lemli–Opitz syndrome in conjunction with prenatal screening for Down syndrome

Wendy Y. Craig, James E. Haddow, Glenn E. Palomaki, Richard I. Kelley, Lisa E. Kratz, Cedric H. L. Shackleton, Josep Marcos, G. Stephen Tint, Andrew R MacRae, Malgorzata J. Nowaczyk, Edward M. Kloza,

Journal:

Prenatal Diagnosis

Year:

2006

Language:

english

File:

PDF, 94 KB

english, 2006

41

Prenatal diagnosis of Smith-Lemli-Opitz syndrome (SLOS) by DHCR7 mutation analysis

John S. Waye, Barry Eng, Małgorzata J. M. Nowaczyk

Journal:

Prenatal Diagnosis

Year:

2007

Language:

english

File:

PDF, 61 KB

english, 2007

42

Anesthetic considerations in Smith-Lemli-Opitz syndrome

Peter T. -L. Choi, Malgorzata J. M. Nowaczyk

Journal:

Canadian Journal of Anesthesia/Journal canadien d'anesthésie

Year:

2000

File:

PDF, 132 KB

2000

43

Determination of adrenolytic drugs by SPME–LC–MS

Boguslaw Buszewski, Pawel Olszowy, Tomasz Ligor, Malgorzata Szultka, Jacek Nowaczyk, Maciej Jaworski, Marek Jackowski

Journal:

Analytical and Bioanalytical Chemistry

Year:

2010

Language:

english

File:

PDF, 240 KB

english, 2010

44

Smith–Lemli–Opitz syndrome: Objective assessment of facial phenotype

Małgorzata J.M. Nowaczyk, Mattea Tan, Jemila S. Hamid, Judith E. Allanson

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 319 KB

english, 2012

45

Germline mosaicism in Cornelia de Lange syndrome

Thomas P. Slavin, Noam Lazebnik, Dinah M. Clark, Jaime Vengoechea, Leslie Cohen, Maninder Kaur, Laura Konczal, Carol A. Crowe, Jane E. Corteville, Malgorzata J. Nowaczyk, Janice L. Byrne, Laird G. Jac

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 151 KB

english, 2012

46

Identification of a prenatal profile of Cornelia de Lange syndrome (CdLS): A review of 53 CdLS pregnancies

Dinah M. Clark, Ilana Sherer, Matthew A. Deardorff, Janice L.B. Byrne, Kathleen M. Loomes, Malgorzata J.M. Nowaczyk, Laird G. Jackson, Ian D. Krantz

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 351 KB

english, 2012

47

Microdeletion in distal 17p13.1: A recognizable phenotype with microcephaly, distinctive facial features, and intellectual disability

Susan Zeesman, Susanne Kjaergaard, Hanne D. Hove, Maria Kirchhoff, Jadd M. Stevens, Małgorzata J.M. Nowaczyk

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 261 KB

english, 2012

48

Narrative medicine in clinical genetics practice

Małgorzata J.M. Nowaczyk

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 105 KB

english, 2012

49

Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome

Rebecca L. Hood, Matthew A. Lines, Sarah M. Nikkel, Jeremy Schwartzentruber, Chandree Beaulieu, Małgorzata J.M. Nowaczyk, Judith Allanson, Chong Ae Kim, Dagmar Wieczorek, Jukka S. Moilanen, Didier Lac

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 440 KB

english, 2012

50

A new way of solid-phase microextraction fibers preparation for selected antibiotic drug determination by HPLC–MS

Pawel Olszowy, Malgorzata Szultka, Jacek Nowaczyk, Boguslaw Buszewski

Journal:

Journal of Chromatography B

Year:

2011

Language:

english

File:

PDF, 889 KB

english, 2011