Identification of a 5' splice site mutation in intron 4 of the L1CAM gene in an X-linked hydrocephalus family von Coucke, Paul, Vits, Lleve, Camp, Guy Van, Serville, Francoise, Lyonnet, Stanislas, Kenwrick, Susan, Rosenthal, André, Wehnert, Manfred, Munnich, Arnold, Willems, Patrick J.

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A gene for Holt-Oram syndrome maps to the distal long arm of chromosome 12 von Schinzel, Albert, Munnich, Arnold, Serville, Françoise, Kachaner, Jean, Mathieu, Michèle, Plauchu, Henri, Bonnet, Damien, Sidi, Daniel, Legeai-Mallet, Laurence, Weissenbach, Jean, Parent, Philippe, Lyonnet, Stanislas, Pelet, Anna

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X-linked dominant Charcot-Marie-Tooth neuropathy (CMTX) : new mutations in the connexin32 gene von RESSOT, C, LATOUR, P, DAUTIGNY, A, PHAM-DINH, D, BLANQUET-GROSSARD, F, STURTZ, F, DUTHEL, S, BATTIN, J, CORBILLON, E, OLLAGNON, E, SERVILLE, F, VANDENBERGHE, A

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Split hand/split foot deformity and LADD syndrome in a family: overlap between the EEC and LADD syndromes von Lacombe, D, Serville, F, Marchand, D, Battin, J

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An interstitial deletion in Xp22.3 in a family with X-linked recessive chondrodysplasia punctata and short stature von Petit, C, Melki, J, Levilliers, J, Serville, F, Weissenbach, J, Maroteaux, P

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No evidence of genetic heterogeneity in Crouzon craniofacial dysostosis von HONG WI MA, LAJEUNIE, E, LE MERRER, M, DE PARSEVAL, N, SERVILLE, F, WEISSENBACH, J, MUNNICH, A, RENIER, D

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Skewed inactivation of an X chromosome deleted at the dystrophin gene in an asymptomatic mother and her affected daughter von TIHY, F, VOGT, N, DUTRILLAUX, B, LEMIEUX, N, RECAN, D, MALFOY, B, LETURCQ, F, COQUET, M, SERVILLE, F, FONTAN, D, GUILLARD, J.-M, KAPLAN, J.-C

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Fraser syndrome: Prenatal ultrasonic detection von Serville, Francoise, Carles, Dominique, Broussin, Bernard

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The gene for X-linked hydrocephalus maps to Xq28, distal to DXS52 von Lyonnet, Stanislas, Pelet, Anna, Royer, Ghislaine, Delrieu, Olivier, Serville, Françoise, Le Marec, Bernard, Gruensteudel, Anita, Pfeiffer, Rudolf A., Briard, Marie-Louise, Dubay, Christopher, Hors-Cayla, Marie-Claude, Merrer, Martine le, Munnich, Arnold

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A gene for Holt–Oram syndrome maps to the distal long arm of chromosome 12 von Bonnet, Damien, Pelet, Anna, Legeai-Mallet, Laurence, Sidi, Daniel, Mathieu, Michèle, Parent, Philippe, Plauchu, Henri, Serville, Françoise, Schinzel, Albert, Weissenbach, Jean, Kachaner, Jean, Munnich, Arnold, Lyonnet, Stanislas

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Prenatal exclusion of X-linked hydrocephalus-stenosis of the aqueduct of sylvius sequence using closely linked DNA markers von Serville, Françoise, Benit, Paule, Saugier, Pascale, Vibert, Mireille, Royer, Ghislaine, Pelet, Anna, Chery, Michèle, Munnich, Arnold, Lyonnet, Stanislas

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Thanatophoric dysplasia of identical twins von Serville, Francoise, Carles, Dominique, Maroteaux, Pierre, Opitz, John M.

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A gene for Holt–Oram syndrome maps to the distal long arm of chromosome 12 von Bonnet, Damien, Pelet, Anna, Legeai-Mallet, Laurence, Sidi, Daniel, Mathieu, Michèle, Parent, Philippe, Plauchu, Henri, Serville, Françoise, Schinzel, Albert, Weissenbach, Jean, Kachaner, Jean, Munnich, Arnold, Lyonnet, Stanislas

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Pericentric inversion and partial monosomy 4q associated with congenital anomalies von Serville, F, Broustet, A

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Gene dosage effect for human triosephosphate isomerase and glyceraldehyde-3-phosphate dehydrogenase in partial trisomy 12p13 and trisomy 18p von Serville, F, Junien, C, Kaplan, J C, Gachet, M, Cadoux, J, Broustet, A

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Mosaic 45,x/47,xy,+18 von Serville, F, Fontan, D, Laurent, C, Cazauran, J M, Verger, P

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