Chudley, A. E.: search on Z-Library

The world's largest scientific articles store. 70,000,000+ articles for free.

Don't use scam websites

51

Fragile (X) X-linked mental retardation I: Relationship between age and intelligence and the frequency of expression of fragil (X)(q28)

Dr. Albert E. Chudley, Joan Knoll, John W. Gerrard, Lawrence Shepel, Ellen McGahey, Jo Anderson, John M. Opitz

Journal:

American Journal of Medical Genetics Part A

Year:

1983

Language:

english

File:

PDF, 702 KB

english, 1983

52

Partial deletion of the long arm of chromosome 11—prenatal diagnosis

Dr. Albert E. Chudley, Paulino D. Pabello, Ernest Pinno, Ray Cardoso

Journal:

American Journal of Medical Genetics Part A

Year:

1983

Language:

english

File:

PDF, 138 KB

english, 1983

53

Familial supernumerary microchromosome mosaicism: Phenotypic effects and an attempt at characterization

Dr. Albert E. Chudley, Huui-Zu Zheng, Paulino D. Pabello, George Shia, Hsi-Chang Wang, John M. Opitz

Journal:

American Journal of Medical Genetics Part A

Year:

1983

Language:

english

File:

PDF, 482 KB

english, 1983

54

Reply to Dr. Gardner's letter

A. E. Chudley, J. H. Knoll, J. W. Gerrard, John M. Optiz

Journal:

American Journal of Medical Genetics Part A

Year:

1984

Language:

english

File:

PDF, 76 KB

english, 1984

55

Multicore disease in sibs with severe mental retardation, short stature, facial anomalies, hypoplasia of the pituitary fossa, and hypogonadotrophic hypogonadism

Dr. Albert E. Chudley, Bohdan Rozdilsky, C. Stuart Houston, Lawrence E. Becker, Joan H. Knoll, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1985

Language:

english

File:

PDF, 1.03 MB

english, 1985

56

Fra(2) (q13) and inv(9) (pllq12) in autism: Causal relationship?

Parul Jayakar, Albert E. Chudley, Mano Ray, Jane A. Evans, Jack Perlov, Rox Wand, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1986

Language:

english

File:

PDF, 593 KB

english, 1986

57

Zimmerman-Laband syndrome and profound mental retardation

Bernard N. Chodirker, Dr. Albert E. Chudley, Milada A. Toffler, Martin H. Reed, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1986

Language:

english

File:

PDF, 373 KB

english, 1986

58

Possible prenatal hydantoin effect in a child born to a nonepileptic mother

Bernard N. Chodirker, Dr. Albert E. Chudley, Martin H. Reed, T. V. N. Persaud, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1987

Language:

english

File:

PDF, 809 KB

english, 1987

59

Invited editorial comment: Cognitive variability in the fragile X syndrome

Dr. Albert E. Chudley, Robert de von Flindt, Randi J. Hagerman

Journal:

American Journal of Medical Genetics Part A

Year:

1987

Language:

english

File:

PDF, 222 KB

english, 1987

60

Developmental delay, short stature, and minor facial anomalies in a child with ring chromosome 16

Bernard N. Chodirker, Manoranjan Ray, Phyllis J. McAlpine, Diane Riordan, Alice Vust, Dora Pugh, Dr. Albert E. Chudley, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1988

Language:

english

File:

PDF, 419 KB

english, 1988

61

Interstitial deletion of the long arm of chromosome 4

Dr. Albert E. Chudley, Mradula R. Verma, Manoranjan Ray, Diane Riordan, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1988

Language:

english

File:

PDF, 180 KB

english, 1988

62

Mental retardation, distinct facial changes, short stature, obesity, and hypogonadism: A new X-linked mental retardation syndrome

Dr. Albert E. Chudley, R. Brian Lowry, David I. Hoar, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1988

Language:

english

File:

PDF, 631 KB

english, 1988

63

Familial duodenal atresia: A report of two families and review

Lyle G. Best, Nathan E. Wiseman, Albert E. Chudley

Journal:

American Journal of Medical Genetics Part A

Year:

1989

Language:

english

File:

PDF, 267 KB

english, 1989

64

Detection of molecular rearrangements in Prader-Willi syndrome patients by using genomic probes recognizing four loci within the PWCR

Dr. C. A. Gregory, A. J. Kirkilionis, C. R. Greenberg, A. E. Chudley, J. L. Hamerton

Journal:

American Journal of Medical Genetics Part A

Year:

1990

Language:

english

File:

PDF, 1.08 MB

english, 1990

65

True precocious puberty in a girl with the fragile X syndrome

Patrick S. J. Moore, Dr. Albert E. Chudley, Jeremy S. D. Winter

Journal:

American Journal of Medical Genetics Part A

Year:

1990

Language:

english

File:

PDF, 294 KB

english, 1990

66

Ulnar agenesis and endocardial fibroelastosis

Sandra L. Marles, Albert E. Chudley

Journal:

American Journal of Medical Genetics Part A

Year:

1990

Language:

english

File:

PDF, 338 KB

english, 1990

67

Short-term memory and cognitive variability in adult fragile X females

Dr. Robert de von Flindt, Bohdan Bybel, Albert E. Chudley, Fatima Lopes

Journal:

American Journal of Medical Genetics Part A

Year:

1991

Language:

english

File:

PDF, 461 KB

english, 1991

68

Floating-Harbor syndrome and celiac disease

Dr. Albert E. Chudley, Stanley P. Moroz

Journal:

American Journal of Medical Genetics Part A

Year:

1991

Language:

english

File:

PDF, 326 KB

english, 1991

69

Newly recognized syndrome of cerebral, ocular, dental, auricular, skeletal anomalies: CODAS syndrome—a case report

Souheil M. Shebib, Martin H. Reed, E. Paul Shuckett, Howard G. Cross, John B. Perry, Dr. Albert E. Chudley

Journal:

American Journal of Medical Genetics Part A

Year:

1991

Language:

english

File:

PDF, 672 KB

english, 1991

70

New familial syndrome of unilateral upper eyelid coloboma, aberrant anterior hairline pattern, and anal anomalies in Manitoba Indians

Sandra L. Marles, Cheryl R. Greenberg, Trivedi V. N. Persaud, E. Paul Shuckett, Dr. Albert E. Chudley

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 453 KB

english, 1992

71

Collaborative prospective study of the fragile X syndrome: One-year progress report

S. L. Sherman, G. Barbi, K. Brøndum-Nielsen, W. T. Brown, N. J. Carpenter, A. E. Chudley, O. P. Ferraz, P. Ferreira, K-H. Gustavson, J. Halliday, A. Hockey, P. N. Howard-Peebles, E. Jenkins, I. Kenner

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 422 KB

english, 1992

72

Recognizable behavioral and somatic phenotype in patients with proximal interstitial 18q deletion: Report on a new affected child and follow-up on the original reported familial cases

Dr. Albert E. Chudley, Sylvia Kovnats, Manoranjan Ray

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 474 KB

english, 1992

73

Transmission of the fra(X) haplotype from three nonpenetrant brothers to their affected grandsons

A. J. Kirkilionis, A. E. Chudley, C. R. Greenberg, D. L. Yan, B. McGillivray, J. L. Hamerton

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 371 KB

english, 1992

74

Segregation analysis of rare autosomal folate sensitive fragile sites

Pranati Samadder, Jane A. Evans, Dr. Albert E. Chudley

Journal:

American Journal of Medical Genetics Part A

Year:

1993

Language:

english

File:

PDF, 639 KB

english, 1993

75

Mucinous cystadenoma of ovary in a patient with Williams syndrome

Sandra L. Marles, Norman A. Goldberg, Dr. Albert E. Chudley

Journal:

American Journal of Medical Genetics Part A

Year:

1993

Language:

english

File:

PDF, 124 KB

english, 1993

76

Male-to-male transmission of mild Bachmann-de Lange syndrome

Bernard N. Chodirker, Albert E. Chudley

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 502 KB

english, 1994

77

Evidence for Ritscher-Schinzel syndrome in Canadian native Indians

Dr. Sandra L. Marles, Bernard N. Chodirker, Cheryl R. Greenberg, Albert E. Chudley

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 757 KB

english, 1995

78

Mosaic trisomy of a small r(1) with an abnormal phenotype

A.J. Dawson, D. Konkin, D. Riordan, A.E. Chudley

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 127 KB

english, 2001

79

Bowen–Conradi syndrome: A clinical and genetic study

R.B. Lowry, A.M. Innes, F.P. Bernier, D.R. McLeod, C.R. Greenberg, A.E. Chudley, B. Chodirker, S.L. Marles, M.J. Crumley, J.C. Loredo-Osti, K. Morgan, T.M. Fujiwara

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 348 KB

english, 2003

80

Möbius sequence, Robin complex, and hypotonia: Severe expression of brainstem disruption spectrum versus Carey–Fineman–Ziter syndrome

Alain Verloes, Pierre Bitoun, Anne Heuskin, Dina Amrom, Hilde Van de Broeck, Sarah M. Nikkel, Albert E. Chudley, Asuri N. Prasad, Cristina Rusu, Mircea Covic, Annick Toutain, Claude Moraine, Melissa A

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 283 KB

english, 2004

81

Clinical and epidemiological findings in patients with central ray deficiency: Split hand foot malformation (SHFM) in Manitoba, Canada

Alison M. Elliott, Martin H. Reed, Albert E. Chudley, Bernard N. Chodirker, Jane A. Evans

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 161 KB

english, 2006

82

Mutation analysis of the FRAS1 gene demonstrates new mutations in a propositus with Fraser syndrome

A. Slavotinek, C. Li, E.H. Sherr, A.E. Chudley

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 166 KB

english, 2006

83

Manitoba oculotrichoanal (MOTA) syndrome: Report of eight new cases

Chumei Li, Sandra L Marles, Cheryl R. Greenberg, Bernard N. Chodirker, Jiddeke van de Kamp, Anne Slavotinek, Albert E. Chudley

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 199 KB

english, 2007

84

Unique disease heritage of the Dutch-German Mennonite population

Noelle C. Orton, A. Micheil Innes, Albert E. Chudley, N. Torben Bech-Hansen

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 324 KB

english, 2008

85

Clinical genetics and the Hutterite population: A review of Mendelian disorders

Kym M. Boycott, Jillian S. Parboosingh, Bernie N. Chodirker, R. Brian Lowry, D. Ross McLeod, Jackie Morris, Cheryl R. Greenberg, Albert E. Chudley, Francois P. Bernier, Julian Midgley, Lisbeth Birk Mø

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 193 KB

english, 2008

86

Molecular cytogenetic investigation of two patients with Y chromosome rearrangements and intellectual disability

C. Tyson, A.J. Dawson, S. Bal, M. Tomiuk, T. Anderson, D. Tucker, D. Riordan, I. Chudoba, B. Morash, A. Mhanni, A.E. Chudley, B. McGillivray, M. Parslow, G. Rappold, R. Roeth, C. Fawcett, Y. Qiao, C.

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 228 KB

english, 2009

87

Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay

Eric A. Muller, Swaroop Aradhya, Joan F. Atkin, Erin P. Carmany, Alison M. Elliott, Albert E. Chudley, Robin D. Clark, David B. Everman, Shannon Garner, Bryan D. Hall, Gail E. Herman, Emma Kivuva, Sub

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 310 KB

english, 2012

88

Challenges of diagnosis in fetal alcohol syndrome and fetal alcohol spectrum disorder in the adult

Albert E. Chudley, Andrea R. Kilgour, Meghan Cranston, Michelle Edwards

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Year:

2007

Language:

english

File:

PDF, 290 KB

english, 2007

89

Infantile muscular dystrophy in Canadian aboriginals is an αB-crystallinopathy

Marc R. Del Bigio, Albert E. Chudley, Harvey B. Sarnat, Craig Campbell, Sharan Goobie, Bernard N. Chodirker, Duygu Selcen

Journal:

Annals of Neurology

Year:

2011

Language:

english

File:

PDF, 313 KB

english, 2011

90

Mercury(II) halide complexes of tertiary phosphines. Part 11. Crystal structure of α-HgI2PPr3; the adoption of an unsymmetrical I2Hg(μ-I)2Hg(PPr3)2 arrangement

Norman A. Bell, Neil A. Chudley, Lorraine A. March, Ian W. Nowell

Journal:

Inorganica Chimica Acta

Year:

1988

Language:

english

File:

PDF, 141 KB

english, 1988

91

Genetic landmarks through philately – porphyria and its effect on world history

Albert E Chudley, James C Haworth

Journal:

Clinical Genetics

Year:

1999

Language:

english

File:

PDF, 1.89 MB

english, 1999

92

Obituary

John L Hamerton, Albert E Chudley

Journal:

Clinical Genetics

Year:

1999

Language:

english

File:

PDF, 168 KB

english, 1999

93

Kabuki syndrome: description of dental findings in 8 patients

AA Mhanni, HG Cross, AE Chudley

Journal:

Clinical Genetics

Year:

1999

Language:

english

File:

PDF, 193 KB

english, 1999

94

Genetic landmarks through philately – Kabuki theater and Kabuki syndrome

Aizeddin A Mhanni, Albert E Chudley

Journal:

Clinical Genetics

Year:

1999

Language:

english

File:

PDF, 163 KB

english, 1999

95

Interstitial 4p deletion in a child with an Angelman syndrome-like phenotype

Am Innes, Ae Chudley, Nl Carson, Aj Dawson

Journal:

Clinical Genetics

Year:

1999

Language:

english

File:

PDF, 151 KB

english, 1999

96

Genetic landmarks through philately – hemophilia

Albert E Chudley, James C Haworth

Journal:

Clinical Genetics

Year:

1999

Language:

english

File:

PDF, 236 KB

english, 1999

97

Genetic landmarks through philately – Henry Louis ‘Lou’ Gehrig and amyotrophic lateral sclerosis

A Micheil Innes, Albert E Chudley

Journal:

Clinical Genetics

Year:

1999

Language:

english

File:

PDF, 138 KB

english, 1999

98

Hallowed beginning

Edmond G Lemire, Albert E Chudley

Journal:

Clinical Genetics

Year:

2000

Language:

english

File:

PDF, 188 KB

english, 2000

99

Genetic landmarks through philately – Crick, Watson and Wilkins: the scientists behind DNA structure

Albert E Chudley

Journal:

Clinical Genetics

Year:

2000

Language:

english

File:

PDF, 273 KB

english, 2000

100

Genetic evaluation of pervasive developmental disorders: the terminal 22q13 deletion syndrome may represent a recognizable phenotype

Chitra Prasad, Asuri N Prasad, Bernard N Chodirker, Christine Lee, Angelika K Dawson, Leslie J Jocelyn, Albert E Chudley

Journal:

Clinical Genetics

Year:

2000

Language:

english

File:

PDF, 204 KB

english, 2000