| Ident. | Authors (with country if any) | Title |
|---|
| 009526 (2002) |
M. Michael Cohen Jr. [Canada] | Vasculogenesis, angiogenesis, hemangiomas, and vascular malformations |
| 009572 (2002) |
John C. Carey [États-Unis] ; David H. Viskochil | Status of the human malformation map: 2002 |
| 009580 (2002) |
Ulla B. Hartling [Danemark] ; Birgit Fischer Hansen [Danemark] ; Jean W. Keeling [Royaume-Uni] ; Lene T. Skovgaard [Danemark] ; Inger Kj R [Danemark] | Short bi‐iliac distance in prenatal Ullrich‐Turner syndrome |
| 009581 (2002) |
F. Forzano [Italie] ; F. Faravelli [Italie] ; A. Loy [Italie] ; M. Di Rocco [Italie] | Severe lymphedema, intestinal lymphangiectasia, seizures and mild mental retardation: Further case of Hennekam syndrome with a severe phenotype |
| 009591 (2002) |
I. Witters [Belgique] ; B. Spitz [Belgique] ; C. Van Hole [Belgique] ; K. Devriendt [Belgique] ; J. P. Fryns [Belgique] ; K. Verbek [Belgique] | Resolution of non‐immune hydrops in Noonan syndrome with favorable outcome |
| 009626 (2002) |
Ayumi Uematsu [Japon] ; Tohru Yorifuji [Japon] ; Junko Muroi [Japon] ; Masahiko Kawai [Japon] ; Mitsukazu Mamada [Japon] ; Masayuki Kaji [Japon] ; Chutaro Yamanaka [Japon] ; Toru Momoi [Japon] ; Tatsutoshi Nakahata [Japon] | Parental origin of normal X chromosomes in Turner syndrome patients with various karyotypes: Implications for the mechanism leading to generation of a 45,X karyotype |
| 009640 (2002) |
Edmond G. Lemire [Canada] | Noonan syndrome or new autosomal dominant condition with coarctation of the aorta, hypertrophic cardiomyopathy, and minor anomalies |
| 009658 (2002) |
Dieter Kotzot [Allemagne] ; Andreas Dufke [Allemagne] ; Andreas Tzschach [Allemagne] ; Iris-Tatjana Baeckert-Sifeddine [Allemagne] ; Martin. Geppert [Allemagne] ; Heidrun Holland [Allemagne] ; Jobst M. Florus [Allemagne] ; Ursula G. Froster [Allemagne] | Molecular breakpoint analysis and relevance of variable mosaicism in a woman with short stature, primary amenorrhea, unilateral gonadoblastoma, and a 46,X,del(Y)(q11)/45,X karyotype |
| 009661 (2002) |
Nancy Monroy [Mexique] ; Marisol L Pez [Mexique] ; Alicia Cervantes [Mexique] ; Diana García-Cruz [Mexique] ; Gildardo Zafra [Mexique] ; Sonia Canún [Mexique] ; Juan Carlos Zenteno [Mexique] ; Susana Kofman-Alfaro [Mexique] | Microsatellite analysis in Turner syndrome: Parental origin of X chromosomes and possible mechanism of formation of abnormal chromosomes |
| 009673 (2002) |
Inge D. C. Van Balkom ; Mariel Alders [Pays-Bas] ; Judith Allanson [Canada] ; Carlo Bellini [Italie] ; Ulrich Frank [Allemagne] ; Greetje De Jong [Afrique du Sud] ; Ingeborg Kolbe [Allemagne] ; Didier Lacombe [France] ; Stan Rockson [États-Unis] ; Peter Rowe [Canada] ; Frits Wijburg [Pays-Bas] ; Raoul C. M. Hennekam [Pays-Bas] | Lymphedema–lymphangiectasia–mental retardation (Hennekam) syndrome: A review |
| 009711 (2002) |
Mary G. Linden [États-Unis] ; Bruce G. Bender [États-Unis] ; Arthur Robinson [États-Unis] | Genetic counseling for sex chromosome abnormalities |
| 009712 (2002) |
David Schlessinger [États-Unis] ; Luisa Herrera [États-Unis] ; Laura Crisponi [Italie] ; Steven Mumm [États-Unis] ; Antonio Percesepe [Italie] ; Massimo Pellegrini [Italie] ; Giuseppe Pilia [Italie] ; Antonino Forabosco [Italie] | Genes and translocations involved in POF |
| 009715 (2002) |
Clara D. M. Van Karnebeek [Pays-Bas] ; Safira Quik [Pays-Bas] ; Sigrid Sluijter [Pays-Bas] ; Miriam M. F. Hulsbeek [Pays-Bas] ; Jan M. N. Hoovers [Pays-Bas] ; Raoul C. M. Hennekam [Pays-Bas] | Further delineation of the chromosome 14q terminal deletion syndrome |
| 009D23 (2001) |
Thomas Reinehr [Allemagne] ; Anna Jauch [Allemagne] ; Barbara Zoll [Allemagne] ; Ute Engel [Allemagne] ; Iris Bartels [Allemagne] ; Werner Andler [Allemagne] | Short stature in a mother and daughter caused by familial der(X)t(X;X)(p22.1‐3;q26) |
| 009D43 (2001) |
Catharine J. Holberg [États-Unis] ; Robert P. Erickson [États-Unis] ; Michael J. Bernas [États-Unis] ; Marlys H. Witte [États-Unis] ; Kimberly E. Fultz [États-Unis] ; M. Andrade [Brésil] ; Charles L. Witte [États-Unis] | Segregation analyses and a genome‐wide linkage search confirm genetic heterogeneity and suggest oligogenic inheritance in some Milroy congenital primary lymphedema families |
| 009D50 (2001) |
Michael L. Leonardi [États-Unis] ; G. Shashidhar Pai [États-Unis] ; Beth Wilkes [États-Unis] ; Robert Roger Lebel [États-Unis] | Ritscher‐Schinzel cranio‐cerebello‐cardiac (3C) syndrome: Report of four new cases and review |
| 009D74 (2001) |
Junko Morimoto [Japon] ; Hidetoshi Kaneoka [Japon] ; Toshiaki Murata [Japon] ; Yumi Nakai Sato [Japon] ; Satoru Ogahara [Japon] ; Shinichi Hirose [Japon] ; Setsuya Naito [Japon] ; Kenji Naritomi [Japon] | Proximal symphalangism with “coarse” facial appearance, mixed hearing loss, and chronic renal failure: New malformation syndrome? |
| 009D99 (2001) |
Carlo Bellini [Italie] ; Eugenio Bonioli [Italie] ; Nathalie Josso [France] ; Corinne Belville [France] ; Massimo Mazzella [Italie] ; Simona Costabel [Italie] ; Angela Rita Sementa [Italie] ; Carla Enrica Marino [Italie] ; Paolo Tomà [Italie] ; Raoul C. M. Hennekam [Pays-Bas] ; Giovanni Serra [Italie] | Persistence of Müllerian derivatives and intestinal lymphangiectasis in two newborn brothers: Confirmation of the Urioste syndrome |
| 009E35 (2001) |
Andrea Superti-Furga [Suisse] ; Luisa Bonafé ; David L. Rimoin | Molecular‐pathogenetic classification of genetic disorders of the skeleton |
| 009E44 (2001) |
André Mégarbané [Liban, France] ; Naji Waked [Liban] ; Eliane Chouery [Liban] ; Yolla Bou Moglabey [Liban] ; Nagib Saliba [Liban] ; Etienne Mornet [France] ; Jean-Louis Serre [France] ; Rima Slim [Liban] | Microcephaly, cutis verticis gyrata of the scalp, retinitis pigmentosa, cataracts, sensorineural deafness, and mental retardation in two brothers |
| 009E68 (2001) |
Mieke M. Van Haelst [Pays-Bas] ; Jeannette Hoogeboom [Pays-Bas] ; Robert-Jan H. Galjaard [Pays-Bas] ; Wim J. Kleijer [Pays-Bas] ; Nicolette S. Den Hollander [Pays-Bas] ; Ronald R. De Krijger [Pays-Bas] ; Raoul C. M. Hennekam [Pays-Bas] ; Martinus F. Niermeijer [Pays-Bas] | Lymphangiectasia with persistent Müllerian derivatives: Confirmation of autosomal recessive Urioste syndrome |
