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1

11p15 ICR1 partial deletions associated with IGF2/H19 DMR hypomethylation and Silver-Russell Syndrome

Habib, Walid Abi, Brioude, Frederic, Azzi, Salah, Salem, Jennifer, Neves, Cristina Das, Personnier, Claire, Chantot-Bastaraud, Sandra, Keren, Boris, Bouc, Yves Le, Harbison, Madeleine, Netchine, Irene

Journal:

Year:

2016

Language:

english

File:

PDF, 1.11 MB

english, 2016

2

Haplotype analysis of the growth hormone releasing hormone receptor locus in three apparently unrelated kindreds from the indian subcontinent with the identical mutation in the GHRH receptor

Michael P. Wajnrajch, Joseph M. Gertner, Alisa S. Sokoloff, Irina Ten, Madeleine D. Harbison, Irène Netchine, Hiralal G. Maheshwari, David B. Goldstein, Serge Amselem, Gerhard Baumann, Rudolph L. Leib

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 135 KB

english, 2003

3

Variants of the anti-Müllerian hormone gene in a compound heterozygote with the persistent Müllerian duct syndrome and his family

Danièle Carré-Eusèbe, Sandrine Imbeaud, Madeleine Harbison, Maria I. New, Nathalie Josso, Jean-Yves Picard

Journal:

Year:

1992

Language:

english

File:

PDF, 1.05 MB

english, 1992

4

Congenital fusion of the fourth and fifth metacarpals associated with primary gonadal failure

William D. Donovan, P. W. Brill, Patricia Winchester, Philip F. Giampietro, Jessica G. Davis, Madeleine Harbison

Journal:

Skeletal Radiology

Year:

1996

Language:

english

File:

PDF, 386 KB

english, 1996

5

Nonsense mutation in the human growth hormone-releasing hormone receptor causes growth failure analogous to the little (lit) mouse

Wajnrajch, Michael P., Gertner, Joseph M., Harbison, Madeleine D., Chua, Streamson C., Leibel, Rudolph L.

Journal:

Nature Genetics

Year:

1996

File:

PDF, 380 KB

1996

6

Delayed gastric emptying (DGE) causes feeding failure(FF) in children born small for gestational age (SGA) with in utero growth retardation (IUGR) and russell-silver syndrome (RSS)

Ursea, Dana I., Spigland, Nitsana A., Buchmiller-Crair, Terry L., Goldsmith, Stanley J., Greifer, Melanie K., Illueca, Marta, Harbison, Madeleine D.

Journal:

Gastroenterology

Year:

2003

Language:

english

File:

PDF, 262 KB

english, 2003

7

Complex Tissue-Specific Epigenotypes in Russell-Silver Syndrome Associated with 11p15 ICR1 Hypomethylation

Azzi, Salah, Blaise, Annick, Steunou, Virginie, Harbison, Madeleine D., Salem, Jennifer, Brioude, Frédéric, Rossignol, Sylvie, Habib, Walid Abi, Thibaud, Nathalie, Neves, Cristina Das, Jule, Marilyne

Journal:

Year:

2014

Language:

english

File:

PDF, 480 KB

english, 2014

8

Aortic distensibility and dilation in Turner’s syndrome

Sharma, Jayendra, Friedman, Deborah, Dave-Sharma, Swati, Harbison, Madeleine

Journal:

Cardiology in the Young

Year:

2009

Language:

english

File:

PDF, 92 KB

english, 2009

9

Treatment with Growth Hormone and Luteinizing Hormone Releasing Hormone Analog Improves Final Adult Height in Children with Congenital Adrenal Hyperplasia

Lin-Su, Karen, Vogiatzi, Maria G., Marshall, Ian, Harbison, Madeleine D., Macapagal, Maria C., Betensky, Brian, Tansil, Susan, New, Maria I.

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2005

Language:

english

File:

PDF, 195 KB

english, 2005

10

Iatrogenic Creutzfeldt-Jakob Disease from Commercial Cadaveric Human Growth Hormone

Appleby, Brian S., Lu, Mei, Bizzi, Alberto, Phillips, Michael D., Berri, Sally M., Harbison, Madeleine D., Schonberger, Lawrence B.

Journal:

Emerging Infectious Diseases

Year:

2013

Language:

english

File:

PDF, 158 KB

english, 2013

11

Final Adult Height in Children with Congenital Adrenal Hyperplasia Treated with Growth Hormone

Lin-Su, Karen, Harbison, Madeleine D., Lekarev, Oksana, Vogiatzi, Maria G., New, Maria I.

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2011

Language:

english

File:

PDF, 520 KB

english, 2011

12

Examination of Genotype and Phenotype Relationships in 14 Patients with Apparent Mineralocorticoid Excess 1

Dave-Sharma, Swati, Wilson, Robert C., Harbison, Madeleine D., Newfield, Ron, Azar, Maryam Razzaghy, Krozowski, Zygmunt S., Funder, John W., Shackleton, Cedric H. L., Bradlow, H. Leon, Wei, Ji-Qing, H

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

1998

Language:

english

File:

PDF, 186 KB

english, 1998

13

Growth Hormone Therapy Alone or in Combination with Gonadotropin-Releasing Hormone Analog Therapy to Improve the Height Deficit in Children with Congenital Adrenal Hyperplasia 1

Quintos, Jose Bernardo Q., Vogiatzi, Maria G., Harbison, Madeleine D., New, Maria I.

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2001

Language:

english

File:

PDF, 186 KB

english, 2001

14

Permissive Action of Growth Hormone on the Renal Response to Dietary Phosphorus Deprivation*

HARBISON, MADELEINE D., GERTNER, JOSEPH M.

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

1990

Language:

english

File:

PDF, 716 KB

english, 1990

15

Final Adult Height in Children With Congenital Adrenal Hyperplasia Treated With Growth Hormone

Lin-Su, Karen, Harbison, Madeleine D., Lekarev, Oksana, Vogiatzi, Maria G., New, Maria I.

Journal:

Obstetric and Gynecologic Survey

Year:

2011

Language:

english

File:

PDF, 324 KB

english, 2011

16

A rare CYP21A2 mutation in a congenital adrenal hyperplasia kindred displaying genotype-phenotype nonconcordance

Khattab, Ahmed, Yuen, Tony, Al-Malki, Sultan, Yau, Mabel, Kazmi, Diya, Sun, Li, Harbison, Madeleine, Haider, Shozeb, Zaidi, Mone, New, Maria I.

Journal:

Annals of the New York Academy of Sciences

Year:

2016

Language:

english

File:

PDF, 286 KB

english, 2016

17

GROWTH FAILURE: STATISTICS APPLIED TO MEDICAL THERAPY

Ostrer, Harry, Harbison, Madeleine D, Crawford, John D

Journal:

Pediatric Research

Year:

1977

Language:

english

File:

PDF, 152 KB

english, 1977

18

Effect of Cyproheptadine on Weight and Growth Velocity in Children with Silver-Russell Syndrome

Lemoine, Anaïs, Harbison, Madeleine D., Salem, Jennifer, Tounian, Patrick, Netchine, Irène, Dubern, Béatrice

Journal:

Journal of Pediatric Gastroenterology & Nutrition

Year:

2017

Language:

english

File:

PDF, 519 KB

english, 2017

19

Genetic disruption of the oncogenic HMGA2–PLAG1–IGF2 pathway causes fetal growth restriction

Abi Habib, Walid, Brioude, Frédéric, Edouard, Thomas, Bennett, James T, Lienhardt-Roussie, Anne, Tixier, Frédérique, Salem, Jennifer, Yuen, Tony, Azzi, Salah, Le Bouc, Yves, Harbison, Madeleine D, Net

Journal:

Genetics in Medicine

Year:

2017

Language:

english

File:

PDF, 1.83 MB

english, 2017

20

Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p15.5 duplications with associated phenotypes and putative functional consequences

Heide, Solveig, Chantot-Bastaraud, Sandra, Keren, Boris, Harbison, Madeleine D, Azzi, Salah, Rossignol, Sylvie, Michot, Caroline, Lackmy-Port Lys, Marilyn, Demeer, Bénédicte, Heinrichs, Claudine, Newf

Journal:

Journal of Medical Genetics

Year:

2017

Language:

english

File:

PDF, 966 KB

english, 2017

21

Formation of upd(7)mat by trisomic rescue: SNP array typing provides new insights in chromosomal nondisjunction

Chantot-Bastaraud, Sandra, Stratmann, Svea, Brioude, Frédéric, Begemann, Matthias, Elbracht, Miriam, Graul-Neumann, Luitgard, Harbison, Madeleine, Netchine, Irène, Eggermann, Thomas

Journal:

Molecular Cytogenetics

Year:

2017

Language:

english

File:

PDF, 961 KB

english, 2017