M.A. Alembik: search on Z-Library

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1

Dento-Craniofacial Phenotypes and underlying Molecular Mechanisms in Hypohidrotic Ectodermal Dysplasia (HED): a Review

Clauss, F., Maniere, M.-C., Obry, F., Waltmann, E., Hadj-Rabia, S., Bodemer, C., Alembik, Y., Lesot, H., Schmittbuhl, M.

Journal:

Journal of Dental Research

Year:

2008

Language:

english

File:

PDF, 941 KB

english, 2008

2

Omphalocele and gastroschisis and associated malformations

Claude Stoll, Yves Alembik, Beatrice Dott, Marie-Paule Roth

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 64 KB

english, 2008

3

Evaluation of routine prenatal diagnosis by a registry of congenital anomalies

Professor C. Stoll, B. Dott, Y. Alembik, M. P. Roth

Journal:

Prenatal Diagnosis

Year:

1995

Language:

english

File:

PDF, 722 KB

english, 1995

4

Orodental phenotype and genotype findings in all subtypes of hypophosphatasia

Amélie Reibel, Marie-Cécile Manière, François Clauss, Dominique Droz, Yves Alembik, Etienne Mornet, Agnès Bloch-Zupan

Journal:

Orphanet Journal of Rare Diseases

Year:

2009

Language:

english

File:

PDF, 780 KB

english, 2009

5

Landau-Kleffner Syndrome: A Pharmacologic Study of Five Cases

Marescaux, C., Hirsch, E., Finck, S., Maquet, P., Schlumberger, E., Sellal, F., Metz-Lutz, M. N., Alembik, Y., Salmon, E., Franck, G., Kurtz, D.

Journal:

Year:

1990

Language:

english

File:

PDF, 844 KB

english, 1990

6

Epidemiology of congenital eye malformations in 131,760 consecutive births

Stoll, C., Alembik, Y., Dott, B., Roth, M. P.

Journal:

Ophthalmic Genetics

Year:

1992

Language:

english

File:

PDF, 683 KB

english, 1992

7

Associated anomalies in cases with anorectal anomalies

Stoll, Claude, Dott, Beatrice, Alembik, Yves, Roth, Marie‐Paule

Journal:

American Journal of Medical Genetics Part A

Year:

2018

Language:

english

File:

PDF, 1.70 MB

english, 2018

8

TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of RBM8A

Boussion, Simon, Escande, Fabienne, Jourdain, Anne-Sophie, Smol, Thomas, Brunelle, Perrine, Duhamel, CÃ©line, Alembik, Yves, AttiÃ©-Bitach, Tania, Baujat, GeneviÃ¨ve, Bazin, Anne, BonniÃ¨re, Maryse, C

Journal:

Year:

2020

File:

PDF, 777 KB

2020

9

Immune Defect in Adults With Down Syndrome: Insights Into a Complex Issue

DieudonnÃ©, Yannick, Uring-Lambert, Beatrice, Jeljeli, Mohamed Maxime, Gies, Vincent, Alembik, Yves, Korganow, Anne-Sophie, Guffroy, AurÃ©lien

Journal:

Frontiers in Immunology

Year:

2020

File:

PDF, 1.85 MB

2020

10

Evaluation of prenatal diagnosis of congenital heart disease

C. Stoll, Y. Alembik, B. Dott, M. J. Meyer, A. Pennerath, M. O. Peter, B. De Geeter

Journal:

Prenatal Diagnosis

Year:

1998

Language:

english

File:

PDF, 135 KB

english, 1998

11

Further clinical and sensorial delineation of Schinzel-Giedion syndrome: Report of two cases

David Minn, Dominique Christmann, Anne De Saint-Martin, Yves Alembik, Mylène Eliot, Geneviève Mack, Michel Fischbach, Jacques Flament, Francis Veillon, Hélène Dollfus

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 271 KB

english, 2002

12

Probable localisation of the Coffin-Lowry locus in Xp22.2-P22.1 by multipoint linkage analysis

A. Hanauer, Y. Alembik, S. Gilgenkrantz, P. Mujica, A. Nivelon-Chevallier, M. E. Pembrey, I. D. Young, J. L. Mandel

Journal:

American Journal of Medical Genetics Part A

Year:

1988

Language:

english

File:

PDF, 349 KB

english, 1988

13

Linkage analysis suggests at least two loci for X-linked nonspecific mental retardation

B. Arveiler, Y. Alembik, A. Hanauer, P. Jacobs, L. Tranebjaerg, M. Mikkelsen, H. Puissant, L. Larget Piet, J. L. Mandel

Journal:

American Journal of Medical Genetics Part A

Year:

1988

Language:

english

File:

PDF, 472 KB

english, 1988

14

Dandy-walker variant malformation, spastic paraplegia, and mental retardation in two sibs

Claude Stoll, Christian Huber, Yves Alembik, Eliette Terrade, Daniel Maitrot

Journal:

American Journal of Medical Genetics Part A

Year:

1990

Language:

english

File:

PDF, 458 KB

english, 1990

15

Epidemiology of Down syndrome in 118,265 consecutive births

Dr. Claude Stoll, Yves Alembik, Béatrice Dott, Marie-Paule Roth

Journal:

American Journal of Medical Genetics Part A

Year:

1990

Language:

english

File:

PDF, 596 KB

english, 1990

16

Ventricular extrasystoles with syncopal episodes, perodactyly, and Robin sequence in three generations: A new inherited MCA syndrome?

Professor Claude Stoll, Jean-René Kieny, Béatrice Dott, Yves Alembik, Sonya Finck

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 568 KB

english, 1992

17

Parental consanguinity as a cause of increased incidence of birth defects in a study of 131, 760 consecutive birthsxs

Professor Claude Stoll, Yves Alembik, Béatrice Dott, Josué Feingold

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 401 KB

english, 1994

18

Reply to Newton Freire-Maia on inbreeding among medical geneticists II

Professor Claude Stoll, Yves Alembik, Béatrice Dott, Josué Feingold

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 68 KB

english, 1995

19

Clinical homogeneity and genetic heterogeneity in Weill–Marchesani syndrome

Laurence Faivre, Hélène Dollfus, Stanislas Lyonnet, Yves Alembik, André Mégarbané, John Samples, Robert J. Gorlin, Abdulrahman Alswaid, Josué Feingold, Martine Le Merrer, Arnold Munnich, Valérie Cormi

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 60 KB

english, 2003

20

Two cousins with partial trisomy 12q and monosomy 12p recombinants of a familial pericentric inversion of the chromosome 12

Clotilde Lagier-Tourenne, E. Ginglinger, Y. Alembik, A. De Saint Martin, M.O. Peter, P. Dulucq, P. Jonveaux, E. Jeandidier

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 133 KB

english, 2004

21

Intrachromosomal triplication for the distal part of chromosome 15q

C. Schluth, M. G. Mattei, C. Mignon-Ravix, S. Salman, Y. Alembik, J. Willig, E. Ginglinger, E. Jeandidier

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 166 KB

english, 2005

22

Associated malformations in patients with oral clefts

Claude Stoll, Yves Alembik, Beatrice Dott, Marie-Paule Roth

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 68 KB

english, 2007

23

Associated malformations among infants with neural tube defects

Claude Stoll, Beatrice Dott, Yves Alembik, Marie-Paule Roth

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 90 KB

english, 2011

24

HLA and down syndrome (DS): Parents at the origin of the nondisjunction share no more HLA-A and -B antigens with their DS child than controls

Dr. C. Stoll, Y. Alembik, N. Armbruster, MM Tongio, S. Mayer, D. C. Rao

Journal:

Genetic Epidemiology

Year:

1988

Language:

english

File:

PDF, 375 KB

english, 1988

25

Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy

Susanna Ranta, Meral Topcu, Saara Tegelberg, Hüseyin Tan, Alp Üstübütün, Isil Saatci, Andreas Dufke, Herbert Enders, Keith Pohl, Yves Alembik, Wayne A. Mitchell, Sara E. Mole, Anna-Elina Lehesjoki

Journal:

Year:

2004

Language:

english

File:

PDF, 242 KB

english, 2004

26

The determination of (R)- and (S)-glutethimide and the corresponding 4-hydroxyglutethimide metabolises in human serum and urine using a Pirkle-type HPLC chiral stationary phase

Irving W. Wainer, Marc C. Alembik, Lawrence J. Fischer

Journal:

Journal of Pharmaceutical and Biomedical Analysis

Year:

1987

Language:

english

File:

PDF, 254 KB

english, 1987

27

Steric and electronic effects in the resolution of enantiomeric amides on a commercially available pirkle-type high-performance liquid chromatographic chiral stationary phase

Irving W. Wainer, Marc C. Alembik

Journal:

Journal of Chromatography A

Year:

1986

Language:

english

File:

PDF, 656 KB

english, 1986

28

Resolution of enantiomeric amides on a cellulose-based chiral stationary phase : Steric and electronic effects

Irving W. Wainer, Marc C. Alembik

Journal:

Journal of Chromatography A

Year:

1986

Language:

english

File:

PDF, 574 KB

english, 1986

29

Resolution of enantiomeric amides on a cellulose tribenzoate chiral stationary phase : Mobile phase modifier effects on retention and stero-selectivity

Irving W. Wainer, Marc C. Alembik, Edward Smith

Journal:

Journal of Chromatography A

Year:

1987

Language:

english

File:

PDF, 667 KB

english, 1987

30

Resolution of enentiomeric amides on a pirklet-type chiral stationary phase : A comparison of subcritical fluid and liquid chromatographic approaches

P. Macaudiere, A. Tambute, M. Caude, R. Rosset, M.A. Alembik, I.W. Wainr

Journal:

Journal of Chromatography A

Year:

1986

Language:

english

File:

PDF, 879 KB

english, 1986

31

Evaluation of prenatal diagnosis by a registry of congenital anomalies

Claude Stoll, Yves Alembik, Béatrice Dott, Marie-Paule Roth, Sonja Finck

Journal:

Prenatal Diagnosis

Year:

1992

Language:

english

File:

PDF, 446 KB

english, 1992

32

Evaluation of prenatal diagnosis of congenital heart disease

C. Stoll, Y. Alembik, B. Dott, P. M. Roth, B. De Geeter

Journal:

Prenatal Diagnosis

Year:

1993

Language:

english

File:

PDF, 579 KB

english, 1993

33

Evaluation of prenatal diagnosis of limb reduction defects by a registry of congenital anomalies

Professor C. Stoll, Y. Alembik, B. Dott, M. P. Roth

Journal:

Prenatal Diagnosis

Year:

1994

Language:

english

File:

PDF, 513 KB

english, 1994

34

Risk factors in congenital heart disease

C. Stoll, Y. Alembik, M. P. Roth, B. Dott, B. Geeter

Journal:

European Journal of Epidemiology

Year:

1989

Language:

english

File:

PDF, 886 KB

english, 1989

35

An epidemiologic study of environmental and genetic factors in congenital hydrocephalus

C. Stoll, Y. Alembik, B. Dott, M. P. Roth

Journal:

European Journal of Epidemiology

Year:

1992

Language:

english

File:

PDF, 620 KB

english, 1992

36

Evaluation of routine prenatal ultrasound examination in detecting fetal chromosomal abnormalities in a low risk population

Claude Stoll, Béatrice Dott, Yves Alembik, Marie-Paule Roth

Journal:

Year:

1993

Language:

english

File:

PDF, 474 KB

english, 1993

37

Hypohidrotic ectodermal dysplasia

Simone Gilgenkrantz, Claudine Blanchet-Bardon, V. Nazzaro, Lorena Formiga, Patricia Mujica, Y. Alembik

Journal:

Year:

1989

Language:

english

File:

PDF, 328 KB

english, 1989

38

Evaluation of prenatal diagnosis of congenital gastro-intestinal atresias

C. Stoll, Y. Alembik, B. Dott, M. P. Roth

Journal:

European Journal of Epidemiology

Year:

1996

Language:

english

File:

PDF, 575 KB

english, 1996

39

Genetic mapping of anhidrotic ectodermal dysplasia: DXS159, a closely linked proximal marker

A. Hanauer, Y. Alembik, B. Arveiler, L. Formiga, S. Gilgenkrantz, J. L. Mandel

Journal:

Year:

1988

Language:

english

File:

PDF, 395 KB

english, 1988

40

Risk factors in internal urinary system malformations

C. Stoll, Y. Alembik, M. P. Roth, B. Dott, P. Sauvage

Journal:

Pediatric Nephrology

Year:

1990

Language:

english

File:

PDF, 553 KB

english, 1990

41

Prenatal detection of internal urinary system's anomalies

C. Stoll, Y. Alembik, B. Dott, M. P. Roth

Journal:

European Journal of Epidemiology

Year:

1995

Language:

english

File:

PDF, 898 KB

english, 1995

42

Resolution of chiral sulfur compounds on a cellulose-based high-performance liquid chromatographic chiral stationary phase

Irving W. Wainer, Marc C. Alembik, Carl R. Johnson

Journal:

Journal of Chromatography A

Year:

1986

Language:

english

File:

PDF, 341 KB

english, 1986

43

X-linked and autosomal recessive Hypohidrotic Ectodermal Dysplasia: genotypic-dental phenotypic findings

F Clauss, N Chassaing, A Smahi, MC Vincent, P Calvas, M Molla, H Lesot, Y Alembik, S Hadj-Rabia, C Bodemer, MC Manière, M Schmittbuhl

Journal:

Clinical Genetics

Year:

2010

Language:

english

File:

PDF, 550 KB

english, 2010

44

Associated malformations among infants with anophthalmia and microphthalmia

Claude Stoll, Beatrice Dott, Yves Alembik, Marie-Paule Roth

Journal:

Birth Defects Research Part A: Clinical and Molecular Teratology

Year:

2012

Language:

english

File:

PDF, 727 KB

english, 2012

45

Evaluation of prenatal diagnosis of cleft lip/palate by foetal ultrasonographic examination

Claude Stoll, Béatrice Dott, Yves Alembik, Marie-Paule Roth

Journal:

Annales de Génétique

Year:

2000

Language:

english

File:

PDF, 44 KB

english, 2000

46

Evaluation and evolution during time of prenatal diagnosis of congenital heart diseases by routine fetal ultrasonographic examination

C Stoll, B Dott, Y Alembik, B De Geeter

Journal:

Annales de Génétique

Year:

2002

Language:

english

File:

PDF, 72 KB

english, 2002

47

Impact of prenatal diagnosis on livebirth prevalence of children with congenital anomalies

Claude Stoll, Y Alembik, B Dott, M.P Roth

Journal:

Annales de Génétique

Year:

2002

Language:

english

File:

PDF, 82 KB

english, 2002

48

Study of placenta of children born with congenital malformations

Claude Stoll, Yves Alembik, Béatrice Dott, Marie-Paule Roth

Journal:

Annales de Génétique

Year:

2003

Language:

english

File:

PDF, 57 KB

english, 2003

49

Risk factors in congenital abdominal wall defects (omphalocele and gastroschisi): a study in a series of 265 858 consecutive births

C. Stoll, Y. Alembik, B. Dott, M.P. Roth

Journal:

Annales de Génétique

Year:

2001

Language:

english

File:

PDF, 58 KB

english, 2001

50

Limb reduction defects in the first generation and deafness in the second generation of intrauterine exposed fetuses to diethylstilbestrol

C. Stoll, Y. Alembik, B. Dott

Journal:

Annales de Génétique

Year:

2003

Language:

english

File:

PDF, 567 KB

english, 2003